Challenge for a new era—importance of ensuring accuracy of genotype in cystic fibrosis registries
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Published in | Journal of cystic fibrosis Vol. 15; no. 5; pp. e50 - e51 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Netherlands
Elsevier B.V
01.09.2016
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Subjects | |
Online Access | Get full text |
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Author | Horsley, Alexander R Green, Heather Henchliffe, Jennifer Brock, Joanna Tobi, Simon E Hartley, Claire L Barry, Peter J Ramsden, Simon C |
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Cites_doi | 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N 10.1016/S2213-2600(12)70057-7 10.1038/ng.2745 10.1002/humu.21569 |
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Copyright | European Cystic Fibrosis Society. 2016 European Cystic Fibrosis Society. |
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References | Sosnay, Siklosi, Van Goor, Kaniecki, Yu, Sharma (bb0010) 2013; 45 Berwouts, Morris, Girodon, Schwarz, Stuhrmann, Dequeker (bb0020) 2011; 32 den Dunnen, Antonarakis (bb0015) 2000; 15 Boyle, De Boeck (bb0005) 2013; 1 Berwouts (10.1016/j.jcf.2016.03.003_bb0020) 2011; 32 Sosnay (10.1016/j.jcf.2016.03.003_bb0010) 2013; 45 den Dunnen (10.1016/j.jcf.2016.03.003_bb0015) 2000; 15 Boyle (10.1016/j.jcf.2016.03.003_bb0005) 2013; 1 |
References_xml | – volume: 1 start-page: 158 year: 2013 end-page: 163 ident: bb0005 article-title: A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect publication-title: Lancet Respir Med contributor: fullname: De Boeck – volume: 15 start-page: 7 year: 2000 end-page: 12 ident: bb0015 article-title: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion publication-title: Hum Mutat contributor: fullname: Antonarakis – volume: 32 start-page: 1197 year: 2011 end-page: 1203 ident: bb0020 article-title: Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme publication-title: Hum Mutat contributor: fullname: Dequeker – volume: 45 start-page: 1160 year: 2013 end-page: 1167 ident: bb0010 article-title: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene publication-title: Nat Genet contributor: fullname: Sharma – volume: 15 start-page: 7 year: 2000 ident: 10.1016/j.jcf.2016.03.003_bb0015 article-title: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion publication-title: Hum Mutat doi: 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N contributor: fullname: den Dunnen – volume: 1 start-page: 158 year: 2013 ident: 10.1016/j.jcf.2016.03.003_bb0005 article-title: A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect publication-title: Lancet Respir Med doi: 10.1016/S2213-2600(12)70057-7 contributor: fullname: Boyle – volume: 45 start-page: 1160 year: 2013 ident: 10.1016/j.jcf.2016.03.003_bb0010 article-title: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene publication-title: Nat Genet doi: 10.1038/ng.2745 contributor: fullname: Sosnay – volume: 32 start-page: 1197 year: 2011 ident: 10.1016/j.jcf.2016.03.003_bb0020 article-title: Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme publication-title: Hum Mutat doi: 10.1002/humu.21569 contributor: fullname: Berwouts |
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SubjectTerms | Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genotype Humans Pulmonary/Respiratory Registries |
Title | Challenge for a new era—importance of ensuring accuracy of genotype in cystic fibrosis registries |
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