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Implication of a novel truncating mutation in titin as a cause of autosomal dominant left ventricular noncompaction

BACKGROUND: Mutation in the titin gene (TTN) in left ventricular noncompaction (LVNC) has been reported with a highly heterogeneous prevalence, and the molecular mechanisms underlying the pathogenesis of TTN gene mutation are uncharacterized. In the present study, we identified a novel TTN mutation...

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Detalles Bibliográficos
Autores principales: DONG, Xue-Qi, ZHANG, Di, QU, Yi, HU, Yu-Xiao, YANG, Chun-Xue, TIAN, Tao, XU, Nan, JIANG, Hai-Lun, ZENG, Li, XIA, Peng-Yan, LIU, Ya-Xin, LIU, Rui, 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/PMC9068586/
https://www.ncbi.nlm.nih.gov/pubmed/35572216
http://dx.doi.org/10.11909/j.issn.1671-5411.2022.04.001