Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy

Published:2020-01-30 Issue:2 Volume:5 Page:
ISSN:2379-3708
Container-title:JCI Insight
language:en
Short-container-title:

Author:

Helms Adam S.,Tang Vi T.^ORCID,O’Leary Thomas S.,Friedline Sabrina,Wauchope Mick,Arora Akul,Wasserman Aaron H.,Smith Eric D.,Lee Lap Man^ORCID,Wen Xiaoquan W.,Shavit Jordan A.^ORCID,Liu Allen P.,Previs Michael J.,Day Sharlene M.

Funder

NIH, the Alfred A. Taubman Medical Research Institute(to SMD), and the Liz and Eric Lefkofsky ScholarAwar

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://insight.jci.org/articles/view/133782/files/pdf

Reference59 articles.

1. Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

2. Molecular Mechanics of Cardiac Myosin-Binding Protein C in Native Thick Filaments

3. Myosin-binding protein C corrects an intrinsic inhomogeneity in cardiac excitation-contraction coupling

4. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish;Zahka;Heart,2008

5. Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

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