Identification of a novel transthyretin mutation D39Y in a cardiac amyloidosis patient and its biochemical characterizations

Hereditary transthyretin cardiac amyloidosis (hATTR-CA) is a rare autosomal dominantly inherited disease caused by mutations in the transthyretin (TTR) gene. TTR mutations often cause the instability of transthyretin, production of misfolded proteins, and ultimately excessive deposition of insoluble...

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Detalles Bibliográficos
Autores principales: Ma, Qunchao, Wang, Mengdie, Huang, Yanan, Nie, Ying, Zhang, Xin, Yang, Dan Dan, Wang, Zhuo, Ding, Siyin, Qian, Ningjing, Liu, Yu, Pan, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909007/
https://www.ncbi.nlm.nih.gov/pubmed/36776255
http://dx.doi.org/10.3389/fcvm.2023.1091183

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