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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Pubblicato in:Eur Heart J
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
Soggetti:
Clinical Research
Accesso online: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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