A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

AIMS: Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence variants that affect the risk of CoA. METHODS...

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Détails bibliographiques
Publié dans:Eur Heart J
Auteurs principaux: Bjornsson, Thorsteinn, Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Sulem, Patrick, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Magnusdottir, Audur, Danielsen, Ragnar, Sigurdsson, Emil L, Adalsteinsdottir, Berglind, Gunnarsson, Sverrir I, Jonsdottir, Ingileif, Arnar, David O, Helgason, Hrodmar, Gudbjartsson, Tomas, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Holm, Hilma, Stefansson, Kari
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2018
Sujets:
Clinical Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6127890/
https://ncbi.nlm.nih.gov/pubmed/29590334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/eurheartj/ehy142
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