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...
Main Authors: | Qunchao Ma, Mengdie Wang, Yanan Huang, Ying Nie, Xin Zhang, Dan Dan Yang, Zhuo Wang, Siyin Ding, Ningjing Qian, Yu Liu, Xiaohong Pan |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-01-01
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Series: | Frontiers in Cardiovascular Medicine |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2023.1091183/full |
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