A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height

BACKGROUND: Several recessive Mendelian disorders are common in Europeans, including cystic fibrosis (CFTR), medium-chain-acyl-Co-A-dehydrogenase deficiency (ACADM), phenylketonuria (PAH) and alpha 1-antitrypsin deficiency (SERPINA1). METHODS: In a multicohort study of >19 000 older individuals,...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: North, Teri-Louise, Ben-Shlomo, Yoav, Cooper, Cyrus, Deary, Ian J, Gallacher, John, Kivimaki, Mika, Kumari, Meena, Martin, Richard M, Pattie, Alison, Sayer, Avan Aihie, Starr, John M, Wong, Andrew, Kuh, Diana, Rodriguez, Santiago, Day, Ian N M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Complex Traits
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4819619/
https://ncbi.nlm.nih.gov/pubmed/26831755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103342
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