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A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction

BACKGROUND: Left ventricular noncompaction (LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC family. METHODS: A 3-generation...

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Detalles Bibliográficos
Autores principales: DONG, Xue-Qi, QIN, Pei-Pei, ZHANG, Di, ZHANG, Qiong-Yu, QU, Yi, ZHAO, Lin, LU, Yi-Ting, HU, Yu-Xiao, YANG, Chun-Xue, LIU, Xin-Chang, LIU, Ya-Xin, ZHOU, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Science Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9361159/
https://www.ncbi.nlm.nih.gov/pubmed/35975021
http://dx.doi.org/10.11909/j.issn.1671-5411.2022.07.011