Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?

被引：2

作者：

Barefield, David Y. ^{[1
]}

机构：

[1] Loyola Univ Chicago, Dept Cell & Mol Physiol, Maywood, IL 60153 USA

来源：

JOURNAL OF GENERAL PHYSIOLOGY | 2023年 / 155卷 / 04期

基金：

美国国家卫生研究院;

关键词：

BINDING PROTEIN-C; HYPERTROPHIC CARDIOMYOPATHY; MYOSIN; PHOSPHORYLATION; GENE;

D O I：

10.1085/jgp.202313351

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.

引用

页数：3

共 21 条

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