Challenge for a new era—importance of ensuring accuracy of genotype in cystic fibrosis registries

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Published inJournal of cystic fibrosis Vol. 15; no. 5; pp. e50 - e51
Main Authors Hartley, Claire L, Barry, Peter J, Green, Heather, Henchliffe, Jennifer, Brock, Joanna, Tobi, Simon E, Ramsden, Simon C, Horsley, Alexander R
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.09.2016
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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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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
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  start-page: 158
  year: 2013
  end-page: 163
  ident: bb0005
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  article-title: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
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  publication-title: Hum Mutat
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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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