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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Vydáno v:Eur Heart J
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
Témata:
Clinical Research
On-line přístup: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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