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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Science Press
2022
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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 |