Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). Methods: We assessed the frequency of SDHB,...
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| Veröffentlicht in: | Journal of medical genetics 2002-03, Vol.39 (3), p.178-183 |
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| creator | Baysal, B E Willett-Brozick, J E Lawrence, E C Drovdlic, C M Savul, S A McLeod, D R Yee, H A Brackmann, D E Slattery, W H Myers, E N Ferrell, R E Rubinstein, W S |
| description | Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). Methods: We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA. Results: Fifty-five subjects were grouped into 10 families and 37 non-familial cases. Five of the non-familial cases had multiple tumours. Germline SDHD mutations were identified in five of 10 (50%) familial and two of 37 (∼5%) non-familial cases. R38X, P81L, H102L, Q109X, and L128fsX134 mutations were identified in the familial cases and P81L was identified in the non-familial cases. Both non-familial cases had multiple tumours. P81L and R38X mutations have previously been reported in other PGL families and P81L was suggested as a founder mutation. Allelic analyses of different chromosomes carrying these mutations did not show common disease haplotypes, strongly suggesting that R38X and P81L are potentially recurrent mutations. Germline SDHB mutations were identified in two of 10 (20%) familial and one of 33 (∼3%) non-familial cases. P131R and M71fsX80 were identified in the familial cases and Q59X was identified in the one non-familial case. The non-familial case had a solitary tumour. No mutations could be identified in the SDHC gene in the remaining four families and 20 sporadic cases. Conclusions: Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and ∼8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations. |
| doi_str_mv | 10.1136/jmg.39.3.178 |
| format | Article |
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Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). Methods: We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA. Results: Fifty-five subjects were grouped into 10 families and 37 non-familial cases. Five of the non-familial cases had multiple tumours. Germline SDHD mutations were identified in five of 10 (50%) familial and two of 37 (∼5%) non-familial cases. R38X, P81L, H102L, Q109X, and L128fsX134 mutations were identified in the familial cases and P81L was identified in the non-familial cases. Both non-familial cases had multiple tumours. P81L and R38X mutations have previously been reported in other PGL families and P81L was suggested as a founder mutation. Allelic analyses of different chromosomes carrying these mutations did not show common disease haplotypes, strongly suggesting that R38X and P81L are potentially recurrent mutations. Germline SDHB mutations were identified in two of 10 (20%) familial and one of 33 (∼3%) non-familial cases. P131R and M71fsX80 were identified in the familial cases and Q59X was identified in the one non-familial case. The non-familial case had a solitary tumour. No mutations could be identified in the SDHC gene in the remaining four families and 20 sporadic cases. Conclusions: Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and ∼8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.39.3.178</identifier><identifier>PMID: 11897817</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>11q23 ; Alleles ; Biological and medical sciences ; carotid body ; carotid body tumours ; Chromosomes ; DNA Mutational Analysis ; Electron Transport Complex II ; Exons - genetics ; Family medical history ; Female ; Founder Effect ; Gene Frequency - genetics ; Gene loci ; Genetic aspects ; Genetic Testing ; genomic imprinting ; Genotype ; Germ-Line Mutation - genetics ; Haplotypes ; Head and Neck Neoplasms - genetics ; Head and neck tumors ; Humans ; Identification and classification ; Male ; Medical sciences ; Multienzyme Complexes - genetics ; Mutation ; Mutation, Missense - genetics ; Nervous system ; Original ; Otorhinolaryngology (head neck, general aspects and miscellaneous) ; Otorhinolaryngology. Stomatology ; Oxidoreductases - genetics ; paraganglioma ; Paraganglioma - genetics ; Pedigree ; PGL ; Polymerase Chain Reaction ; Prevalence ; single tandem repeat polymorphism ; STRP ; Studies ; succinate dehydrogenase ; Succinate Dehydrogenase - genetics ; Tumors ; United States</subject><ispartof>Journal of medical genetics, 2002-03, Vol.39 (3), p.178-183</ispartof><rights>Copyright 2002 Journal of Medical Genetics</rights><rights>2002 INIST-CNRS</rights><rights>COPYRIGHT 2002 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2002 Copyright 2002 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b585t-ee870dfba52e4dfb362fa6966bf6fef1201cbabeb7cfa1db3eec63dbe5b7ae293</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735061/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735061/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13538860$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11897817$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baysal, B E</creatorcontrib><creatorcontrib>Willett-Brozick, J E</creatorcontrib><creatorcontrib>Lawrence, E C</creatorcontrib><creatorcontrib>Drovdlic, C M</creatorcontrib><creatorcontrib>Savul, S A</creatorcontrib><creatorcontrib>McLeod, D R</creatorcontrib><creatorcontrib>Yee, H A</creatorcontrib><creatorcontrib>Brackmann, D E</creatorcontrib><creatorcontrib>Slattery, W H</creatorcontrib><creatorcontrib>Myers, E N</creatorcontrib><creatorcontrib>Ferrell, R E</creatorcontrib><creatorcontrib>Rubinstein, W S</creatorcontrib><title>Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). Methods: We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA. Results: Fifty-five subjects were grouped into 10 families and 37 non-familial cases. Five of the non-familial cases had multiple tumours. Germline SDHD mutations were identified in five of 10 (50%) familial and two of 37 (∼5%) non-familial cases. R38X, P81L, H102L, Q109X, and L128fsX134 mutations were identified in the familial cases and P81L was identified in the non-familial cases. Both non-familial cases had multiple tumours. P81L and R38X mutations have previously been reported in other PGL families and P81L was suggested as a founder mutation. Allelic analyses of different chromosomes carrying these mutations did not show common disease haplotypes, strongly suggesting that R38X and P81L are potentially recurrent mutations. Germline SDHB mutations were identified in two of 10 (20%) familial and one of 33 (∼3%) non-familial cases. P131R and M71fsX80 were identified in the familial cases and Q59X was identified in the one non-familial case. The non-familial case had a solitary tumour. No mutations could be identified in the SDHC gene in the remaining four families and 20 sporadic cases. Conclusions: Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and ∼8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.</description><subject>11q23</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>carotid body</subject><subject>carotid body tumours</subject><subject>Chromosomes</subject><subject>DNA Mutational Analysis</subject><subject>Electron Transport Complex II</subject><subject>Exons - genetics</subject><subject>Family medical history</subject><subject>Female</subject><subject>Founder Effect</subject><subject>Gene Frequency - genetics</subject><subject>Gene loci</subject><subject>Genetic aspects</subject><subject>Genetic Testing</subject><subject>genomic imprinting</subject><subject>Genotype</subject><subject>Germ-Line Mutation - genetics</subject><subject>Haplotypes</subject><subject>Head and Neck Neoplasms - genetics</subject><subject>Head and neck tumors</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Multienzyme Complexes - genetics</subject><subject>Mutation</subject><subject>Mutation, Missense - genetics</subject><subject>Nervous system</subject><subject>Original</subject><subject>Otorhinolaryngology (head neck, general aspects and miscellaneous)</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Oxidoreductases - genetics</subject><subject>paraganglioma</subject><subject>Paraganglioma - genetics</subject><subject>Pedigree</subject><subject>PGL</subject><subject>Polymerase Chain Reaction</subject><subject>Prevalence</subject><subject>single tandem repeat polymorphism</subject><subject>STRP</subject><subject>Studies</subject><subject>succinate dehydrogenase</subject><subject>Succinate Dehydrogenase - genetics</subject><subject>Tumors</subject><subject>United States</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9ktFv0zAQxiMEYmXwxjOKhICXpthxbCcvSKMFhphGxQYPvFi2c07dJU6x0wH_PS6NVkATsuSz7n7-_Pl0SfIYoxnGhL1cd82MVDMyw7y8k0xwwcqM5UVxN5kglOdZTitylDwIYY0QJhyz-8kRxmXFS8wnyXrp4Vq24DSkvUkvFqevp7t9Pk2lq3enRdqA71rrIO22gxxs70JqXapjyup0EzPghpB-t8MqXYGsf190oK9izctGuqa1fSfDw-SekW2AR2M8Tj6_fXM5P83OPr57Pz85yxQt6ZABlBzVRkmaQxEjYbmRrGJMGWbA4BxhraQCxbWRuFYEQDNSK6CKS8grcpy82ututqqDWkd3XrZi420n_U_RSyv-rji7Ek1_LTAnFDEcBZ6PAr7_toUwiM4GDW0rHfTbIDimBaKURvDpP-C633oXPxe1yuiU0LyM1HRPNbHPwjrTx1d1Aw7i470DY2P6pCxoURQsj3h2Cx5XDZ3Vt_GjvPZ9CB7MzU8xErsJEXFCBKkE2ZmK-JM_u3OAx5GIwLMRkEHL1njptA0HjlBSlgwdfNowwI-buvRXgnHCqTj_MhdfL5cXH5afzsUi8i_2vOrW_7f4Cwjk4Tk</recordid><startdate>20020301</startdate><enddate>20020301</enddate><creator>Baysal, B E</creator><creator>Willett-Brozick, J E</creator><creator>Lawrence, E C</creator><creator>Drovdlic, C M</creator><creator>Savul, S A</creator><creator>McLeod, D R</creator><creator>Yee, H A</creator><creator>Brackmann, D E</creator><creator>Slattery, W H</creator><creator>Myers, E N</creator><creator>Ferrell, R E</creator><creator>Rubinstein, W S</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20020301</creationdate><title>Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas</title><author>Baysal, B E ; Willett-Brozick, J E ; Lawrence, E C ; Drovdlic, C M ; Savul, S A ; McLeod, D R ; Yee, H A ; Brackmann, D E ; Slattery, W H ; Myers, E N ; Ferrell, R E ; Rubinstein, W S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b585t-ee870dfba52e4dfb362fa6966bf6fef1201cbabeb7cfa1db3eec63dbe5b7ae293</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>11q23</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>carotid body</topic><topic>carotid body tumours</topic><topic>Chromosomes</topic><topic>DNA Mutational Analysis</topic><topic>Electron Transport Complex II</topic><topic>Exons - genetics</topic><topic>Family medical history</topic><topic>Female</topic><topic>Founder Effect</topic><topic>Gene Frequency - genetics</topic><topic>Gene loci</topic><topic>Genetic aspects</topic><topic>Genetic Testing</topic><topic>genomic imprinting</topic><topic>Genotype</topic><topic>Germ-Line Mutation - genetics</topic><topic>Haplotypes</topic><topic>Head and Neck Neoplasms - genetics</topic><topic>Head and neck tumors</topic><topic>Humans</topic><topic>Identification and classification</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Multienzyme Complexes - genetics</topic><topic>Mutation</topic><topic>Mutation, Missense - genetics</topic><topic>Nervous system</topic><topic>Original</topic><topic>Otorhinolaryngology (head neck, general aspects and miscellaneous)</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Oxidoreductases - genetics</topic><topic>paraganglioma</topic><topic>Paraganglioma - genetics</topic><topic>Pedigree</topic><topic>PGL</topic><topic>Polymerase Chain Reaction</topic><topic>Prevalence</topic><topic>single tandem repeat polymorphism</topic><topic>STRP</topic><topic>Studies</topic><topic>succinate dehydrogenase</topic><topic>Succinate Dehydrogenase - genetics</topic><topic>Tumors</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baysal, B E</creatorcontrib><creatorcontrib>Willett-Brozick, J E</creatorcontrib><creatorcontrib>Lawrence, E C</creatorcontrib><creatorcontrib>Drovdlic, C M</creatorcontrib><creatorcontrib>Savul, S A</creatorcontrib><creatorcontrib>McLeod, D R</creatorcontrib><creatorcontrib>Yee, H A</creatorcontrib><creatorcontrib>Brackmann, D E</creatorcontrib><creatorcontrib>Slattery, W H</creatorcontrib><creatorcontrib>Myers, E N</creatorcontrib><creatorcontrib>Ferrell, R E</creatorcontrib><creatorcontrib>Rubinstein, W S</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest - Health & Medical Complete保健、医学与药学数据库</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Baysal, B E</au><au>Willett-Brozick, J E</au><au>Lawrence, E C</au><au>Drovdlic, C M</au><au>Savul, S A</au><au>McLeod, D R</au><au>Yee, H A</au><au>Brackmann, D E</au><au>Slattery, W H</au><au>Myers, E N</au><au>Ferrell, R E</au><au>Rubinstein, W S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2002-03-01</date><risdate>2002</risdate><volume>39</volume><issue>3</issue><spage>178</spage><epage>183</epage><pages>178-183</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). Methods: We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA. Results: Fifty-five subjects were grouped into 10 families and 37 non-familial cases. Five of the non-familial cases had multiple tumours. Germline SDHD mutations were identified in five of 10 (50%) familial and two of 37 (∼5%) non-familial cases. R38X, P81L, H102L, Q109X, and L128fsX134 mutations were identified in the familial cases and P81L was identified in the non-familial cases. Both non-familial cases had multiple tumours. P81L and R38X mutations have previously been reported in other PGL families and P81L was suggested as a founder mutation. Allelic analyses of different chromosomes carrying these mutations did not show common disease haplotypes, strongly suggesting that R38X and P81L are potentially recurrent mutations. Germline SDHB mutations were identified in two of 10 (20%) familial and one of 33 (∼3%) non-familial cases. P131R and M71fsX80 were identified in the familial cases and Q59X was identified in the one non-familial case. The non-familial case had a solitary tumour. No mutations could be identified in the SDHC gene in the remaining four families and 20 sporadic cases. Conclusions: Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and ∼8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11897817</pmid><doi>10.1136/jmg.39.3.178</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 2002-03, Vol.39 (3), p.178-183 |
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| subjects | 11q23 Alleles Biological and medical sciences carotid body carotid body tumours Chromosomes DNA Mutational Analysis Electron Transport Complex II Exons - genetics Family medical history Female Founder Effect Gene Frequency - genetics Gene loci Genetic aspects Genetic Testing genomic imprinting Genotype Germ-Line Mutation - genetics Haplotypes Head and Neck Neoplasms - genetics Head and neck tumors Humans Identification and classification Male Medical sciences Multienzyme Complexes - genetics Mutation Mutation, Missense - genetics Nervous system Original Otorhinolaryngology (head neck, general aspects and miscellaneous) Otorhinolaryngology. Stomatology Oxidoreductases - genetics paraganglioma Paraganglioma - genetics Pedigree PGL Polymerase Chain Reaction Prevalence single tandem repeat polymorphism STRP Studies succinate dehydrogenase Succinate Dehydrogenase - genetics Tumors United States |
| title | Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T09%3A37%3A49IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Prevalence%20of%20SDHB,%20SDHC,%20and%20SDHD%20germline%20mutations%20in%20clinic%20patients%20with%20head%20and%20neck%20paragangliomas&rft.jtitle=Journal%20of%20medical%20genetics&rft.au=Baysal,%20B%20E&rft.date=2002-03-01&rft.volume=39&rft.issue=3&rft.spage=178&rft.epage=183&rft.pages=178-183&rft.issn=0022-2593&rft.eissn=1468-6244&rft.coden=JMDGAE&rft_id=info:doi/10.1136/jmg.39.3.178&rft_dat=%3Cgale_pubme%3EA84544462%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1781203528&rft_id=info:pmid/11897817&rft_galeid=A84544462&rfr_iscdi=true |