Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely fo...
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| description | Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two patients who were not OCA1, OCA2, or OCA4. Examination and analysis of the
TYRP1
gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant
TYPR1
alleles were present in each of the two patients, c.780-791del/c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Moreover, population screening and bioinformatic analysis were carried out to determine the effects of these two mutations which revealed that both the mutation were pathogenic. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population. |
| doi_str_mv | 10.1007/s12013-011-9234-0 |
| format | Article |
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TYRP1
gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant
TYPR1
alleles were present in each of the two patients, c.780-791del/c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Moreover, population screening and bioinformatic analysis were carried out to determine the effects of these two mutations which revealed that both the mutation were pathogenic. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population.</description><identifier>ISSN: 1085-9195</identifier><identifier>EISSN: 1559-0283</identifier><identifier>DOI: 10.1007/s12013-011-9234-0</identifier><identifier>PMID: 21739261</identifier><language>eng</language><publisher>New York: Humana Press Inc</publisher><subject>Albinism ; Albinism, Oculocutaneous - genetics ; Albinism, Oculocutaneous - pathology ; Albinism, Oculocutaneous - physiopathology ; Animals ; Asian Continental Ancestry Group - genetics ; Base Sequence ; Biochemistry ; Bioinformatics ; Biological and Medical Physics ; Biomedical and Life Sciences ; Biophysics ; Biotechnology ; Cell Biology ; Computational Biology ; DNA Mutational Analysis ; DNA sequencing ; Female ; Genotyping ; Hair ; Heterogeneity ; Heterozygote ; Humans ; Infant ; Life Sciences ; Male ; Melanin ; Membrane Glycoproteins - genetics ; Minority & ethnic groups ; Mutation ; Original Paper ; Oxidoreductases - genetics ; Pharmacology/Toxicology ; Phenotype ; Polymerase chain reaction</subject><ispartof>Cell biochemistry and biophysics, 2011-12, Vol.61 (3), p.523-529</ispartof><rights>Springer Science+Business Media, LLC 2011</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c469t-cacedc2042bdf78d6f2f6f5e315a136f10726f65adffb3cef365298f37b2543a3</citedby><cites>FETCH-LOGICAL-c469t-cacedc2042bdf78d6f2f6f5e315a136f10726f65adffb3cef365298f37b2543a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12013-011-9234-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12013-011-9234-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21739261$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhang, Kai-hui</creatorcontrib><creatorcontrib>Li, Zhuo</creatorcontrib><creatorcontrib>Lei, Jie</creatorcontrib><creatorcontrib>Pang, Ting</creatorcontrib><creatorcontrib>Xu, Bei</creatorcontrib><creatorcontrib>Jiang, Wei-ying</creatorcontrib><creatorcontrib>Li, Hong-yi</creatorcontrib><title>Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients</title><title>Cell biochemistry and biophysics</title><addtitle>Cell Biochem Biophys</addtitle><addtitle>Cell Biochem Biophys</addtitle><description>Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two patients who were not OCA1, OCA2, or OCA4. Examination and analysis of the
TYRP1
gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant
TYPR1
alleles were present in each of the two patients, c.780-791del/c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Moreover, population screening and bioinformatic analysis were carried out to determine the effects of these two mutations which revealed that both the mutation were pathogenic. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population.</description><subject>Albinism</subject><subject>Albinism, Oculocutaneous - genetics</subject><subject>Albinism, Oculocutaneous - pathology</subject><subject>Albinism, Oculocutaneous - physiopathology</subject><subject>Animals</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Base Sequence</subject><subject>Biochemistry</subject><subject>Bioinformatics</subject><subject>Biological and Medical Physics</subject><subject>Biomedical and Life Sciences</subject><subject>Biophysics</subject><subject>Biotechnology</subject><subject>Cell Biology</subject><subject>Computational Biology</subject><subject>DNA Mutational Analysis</subject><subject>DNA sequencing</subject><subject>Female</subject><subject>Genotyping</subject><subject>Hair</subject><subject>Heterogeneity</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Melanin</subject><subject>Membrane Glycoproteins - genetics</subject><subject>Minority & ethnic groups</subject><subject>Mutation</subject><subject>Original Paper</subject><subject>Oxidoreductases - genetics</subject><subject>Pharmacology/Toxicology</subject><subject>Phenotype</subject><subject>Polymerase chain reaction</subject><issn>1085-9195</issn><issn>1559-0283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kUFv1DAQhS1ERduFH8AFWVwoh8CMHTsxt9WqlEqFrdBy4BQlzhhSZe1tnLTaf4-XFJCQ4GRb_t4b-z3GniO8QYDibUQBKDNAzIyQeQaP2AkqZTIQpXyc9lCqzKBRx-w0xhsAISDPn7BjgYU0QuMJ69d26oOdxtpTmCJf9k3nu7jlm_2OuORn69VSvn7Hl77u97GLPDi-uQ_8U7ijnn9MurELPvLO883Xz9fIL8jTz1OCVt87T5H4dYLIj_EpO3J1H-nZw7pgX96fb1Yfsqv1xeVqeZXZXJsxs7Wl1qaniqZ1RdlqJ5x2iiSqGqV2CIXQTqu6da6RlpzUSpjSyaIRKpe1XLBXs-9uCLcTxbHadtFS38-frAworUvAPJFn_yUxJQkCdYp3wV7-hd6EaUixHPxyQKMLnSCcITuEGAdy1W7otvWwT07VobNq7qxKnVWHzipImhcPxlOzpfa34ldJCRAzENOV_0bDn8n_dv0B3cqfBw</recordid><startdate>20111201</startdate><enddate>20111201</enddate><creator>Zhang, Kai-hui</creator><creator>Li, Zhuo</creator><creator>Lei, Jie</creator><creator>Pang, Ting</creator><creator>Xu, Bei</creator><creator>Jiang, Wei-ying</creator><creator>Li, Hong-yi</creator><general>Humana Press Inc</general><general>Springer Nature B.V</general><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>7QL</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20111201</creationdate><title>Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients</title><author>Zhang, Kai-hui ; Li, Zhuo ; Lei, Jie ; Pang, Ting ; Xu, Bei ; Jiang, Wei-ying ; Li, Hong-yi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c469t-cacedc2042bdf78d6f2f6f5e315a136f10726f65adffb3cef365298f37b2543a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Albinism</topic><topic>Albinism, Oculocutaneous - genetics</topic><topic>Albinism, Oculocutaneous - pathology</topic><topic>Albinism, Oculocutaneous - physiopathology</topic><topic>Animals</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Base Sequence</topic><topic>Biochemistry</topic><topic>Bioinformatics</topic><topic>Biological and Medical Physics</topic><topic>Biomedical and Life Sciences</topic><topic>Biophysics</topic><topic>Biotechnology</topic><topic>Cell Biology</topic><topic>Computational Biology</topic><topic>DNA Mutational Analysis</topic><topic>DNA sequencing</topic><topic>Female</topic><topic>Genotyping</topic><topic>Hair</topic><topic>Heterogeneity</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Melanin</topic><topic>Membrane Glycoproteins - genetics</topic><topic>Minority & ethnic groups</topic><topic>Mutation</topic><topic>Original Paper</topic><topic>Oxidoreductases - genetics</topic><topic>Pharmacology/Toxicology</topic><topic>Phenotype</topic><topic>Polymerase chain reaction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhang, Kai-hui</creatorcontrib><creatorcontrib>Li, Zhuo</creatorcontrib><creatorcontrib>Lei, Jie</creatorcontrib><creatorcontrib>Pang, Ting</creatorcontrib><creatorcontrib>Xu, Bei</creatorcontrib><creatorcontrib>Jiang, Wei-ying</creatorcontrib><creatorcontrib>Li, Hong-yi</creatorcontrib><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>Bacteriology Abstracts (Microbiology B)</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research 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 Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Cell biochemistry and biophysics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhang, Kai-hui</au><au>Li, Zhuo</au><au>Lei, Jie</au><au>Pang, Ting</au><au>Xu, Bei</au><au>Jiang, Wei-ying</au><au>Li, Hong-yi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients</atitle><jtitle>Cell biochemistry and biophysics</jtitle><stitle>Cell Biochem Biophys</stitle><addtitle>Cell Biochem Biophys</addtitle><date>2011-12-01</date><risdate>2011</risdate><volume>61</volume><issue>3</issue><spage>523</spage><epage>529</epage><pages>523-529</pages><issn>1085-9195</issn><eissn>1559-0283</eissn><abstract>Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. Our recent genotyping of patients with OCA of Chinese descent has identified two patients who were not OCA1, OCA2, or OCA4. Examination and analysis of the
TYRP1
gene identified them to be having OCA3. PCR and DNA sequencing analysis found that the mutant
TYPR1
alleles were present in each of the two patients, c.780-791del/c.1067G>A (p.R356Q) and c.625G>TT (p.G209LfsX1)/c.643C>T (p.H215Y). The c.780-791del and c.1067G>A mutations have been already reported. However, the c.625G>TT and c.643C>T mutations have not been previously reported and were found to be maternal and paternal mutations, respectively. Moreover, population screening and bioinformatic analysis were carried out to determine the effects of these two mutations which revealed that both the mutation were pathogenic. Based on the similar mild phenotype of these two patients, we suggest that OCA3 might be prevalent within the Chinese population.</abstract><cop>New York</cop><pub>Humana Press Inc</pub><pmid>21739261</pmid><doi>10.1007/s12013-011-9234-0</doi><tpages>7</tpages></addata></record> |
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| subjects | Albinism Albinism, Oculocutaneous - genetics Albinism, Oculocutaneous - pathology Albinism, Oculocutaneous - physiopathology Animals Asian Continental Ancestry Group - genetics Base Sequence Biochemistry Bioinformatics Biological and Medical Physics Biomedical and Life Sciences Biophysics Biotechnology Cell Biology Computational Biology DNA Mutational Analysis DNA sequencing Female Genotyping Hair Heterogeneity Heterozygote Humans Infant Life Sciences Male Melanin Membrane Glycoproteins - genetics Minority & ethnic groups Mutation Original Paper Oxidoreductases - genetics Pharmacology/Toxicology Phenotype Polymerase chain reaction |
| title | Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients |
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