Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease

LMNA gene encodes Lamin A and C (Lamin A/C), which are intermediate filament protein implicating in DNA replication and transcription. Mutations in LMNA are validated to cause cardiac conduction disease (CCD) and cardiomyopathy. In a Chinese family, we identified 5 members harboring the identical he...

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Detalles Bibliográficos
Autores principales: Gao, Yuan, Han, Zhonglin, Wu, Xiang, Lan, Rongfang, Zhang, Xinlin, Shen, Wenzhi, Liu, Yu, Liu, Xuehua, Lan, Xi, Xu, Biao, Xu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
3400
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447464/
https://www.ncbi.nlm.nih.gov/pubmed/32846814
http://dx.doi.org/10.1097/MD.0000000000021797

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