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,...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Complex Traits
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819619/
https://www.ncbi.nlm.nih.gov/pubmed/26831755
http://dx.doi.org/10.1136/jmedgenet-2015-103342

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819619/
https://www.ncbi.nlm.nih.gov/pubmed/26831755
http://dx.doi.org/10.1136/jmedgenet-2015-103342

Ejemplares similares