Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
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| Veröffentlicht in: | Journal of medical genetics 2003-06, Vol.40 (6), p.e82-82 |
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| container_issue | 6 |
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| container_title | Journal of medical genetics |
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| creator | Ars, E Kruyer, H Morell, M Pros, E Serra, E Ravella, A Estivill, X Lázaro, C |
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| doi_str_mv | 10.1136/jmg.40.6.e82 |
| format | Article |
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Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Ars, E ; Kruyer, H ; Morell, M ; Pros, E ; Serra, E ; Ravella, A ; Estivill, X ; Lázaro, C</creator><creatorcontrib>Ars, E ; Kruyer, H ; Morell, M ; Pros, E ; Serra, E ; Ravella, A ; Estivill, X ; Lázaro, C</creatorcontrib><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.40.6.e82</identifier><identifier>PMID: 12807981</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Alternative Splicing - genetics ; Amino Acid Substitution - genetics ; Cafe-au-Lait Spots - genetics ; Child ; Child, Preschool ; DNA - genetics ; Genes, Neurofibromatosis 1 ; Genetic testing ; Genetic Variation - genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability - genetics ; Laboratories ; Learning Disorders - 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genetics</subject><subject>Phenotype</subject><subject>Recurrence</subject><subject>recurrent mutation</subject><subject>RNA Processing, Post-Transcriptional - genetics</subject><subject>Scoliosis - genetics</subject><subject>Skin Neoplasms - genetics</subject><subject>splicing defect</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</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>eNp9kUFPGzEQha0KVALtjXNliQOXburxer3eSyUUEVKBUgkVkHqx7M1s2JRdB9tbwb-vo0RAL8jS-DCf3puZR8gxsDFALr-tuuVYsLEco-IfyAiEVJnkQuyREWOcZ7yo8gNyGMKKMchLkB_JAXDFykrBiNxeYz14j32k3RBNbF0faNvTeI90PgW6xB6p8Uhr13WupyaVJe1x8K5prXediS60gcbnNVKg66SQtMInst-Yh4Cfd_8RuZme_5rMsqufFz8mZ1eZLSCPmcXKKIkNV6ikaCA9kYM1pma2YcyCWiArTF1UzaJkFQeohcVFUcoqLzeLHZHvW931YDtc1Mnbmwe99m1n_LN2ptX_d_r2Xi_dXw1lXohKJIGTnYB3jwOGqFdu8H2aOSEKOBMV21Bft1TtXQgemxcHYHqTgk4paMG01CmFhH95O9UrvDt7ArIt0IaITy994_9oWeZloee3Ez2f3V38nhXX-jLxp1vedqv3rf8Bd_Kg9w</recordid><startdate>20030601</startdate><enddate>20030601</enddate><creator>Ars, E</creator><creator>Kruyer, H</creator><creator>Morell, M</creator><creator>Pros, E</creator><creator>Serra, E</creator><creator>Ravella, A</creator><creator>Estivill, X</creator><creator>Lázaro, C</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</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>5PM</scope></search><sort><creationdate>20030601</creationdate><title>Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients</title><author>Ars, E ; Kruyer, H ; Morell, M ; Pros, E ; Serra, E ; Ravella, A ; Estivill, X ; Lázaro, C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b513t-be9a86ef28e864f1f1f431baac0bf00b18de05ac59fd709211c4bed5769372593</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Alternative Splicing - genetics</topic><topic>Amino Acid Substitution - genetics</topic><topic>Cafe-au-Lait Spots - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>DNA - genetics</topic><topic>Genes, Neurofibromatosis 1</topic><topic>Genetic testing</topic><topic>Genetic Variation - genetics</topic><topic>Genotype</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intellectual Disability - genetics</topic><topic>Laboratories</topic><topic>Learning Disorders - genetics</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurofibroma - genetics</topic><topic>Neurofibroma, Plexiform - genetics</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>neurofibromatosis type 1</topic><topic>Neurofibromin 1 - chemistry</topic><topic>Neurofibromin 1 - genetics</topic><topic>NF1</topic><topic>Online Mutation Report</topic><topic>Optic Nerve Glioma - genetics</topic><topic>Phenotype</topic><topic>Recurrence</topic><topic>recurrent mutation</topic><topic>RNA Processing, Post-Transcriptional - 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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Alternative Splicing - genetics Amino Acid Substitution - genetics Cafe-au-Lait Spots - genetics Child Child, Preschool DNA - genetics Genes, Neurofibromatosis 1 Genetic testing Genetic Variation - genetics Genotype Humans Infant Infant, Newborn Intellectual Disability - genetics Laboratories Learning Disorders - genetics Mutation Mutation - genetics Neurofibroma - genetics Neurofibroma, Plexiform - genetics Neurofibromatosis 1 - genetics neurofibromatosis type 1 Neurofibromin 1 - chemistry Neurofibromin 1 - genetics NF1 Online Mutation Report Optic Nerve Glioma - genetics Phenotype Recurrence recurrent mutation RNA Processing, Post-Transcriptional - genetics Scoliosis - genetics Skin Neoplasms - genetics splicing defect |
| title | Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients |
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