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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Detalhes bibliográficos
Publicado no:Eur Heart J
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Clinical Research
Acesso em linha: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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