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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Veröffentlicht in:Eur Heart J
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2018
Schlagworte:
Clinical Research
Online Zugang: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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