Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases

Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases

Abstract Background Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease characterized by extracellular deposits of amyloid due to the autosomal dominant inheritance of a mutation in the TTR gene (18q12.1). Although described worldwide, it is a rare disease, limited to certain p...

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Bibliographic Details
Main Authors: Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres, Carlos Cantú-Brito
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary amyloidosis
TTR Ser50Arg
Ser52Pro
Gly47Ala mutations
Online Access:http://link.springer.com/article/10.1186/s13023-018-0801-y

Internet

http://link.springer.com/article/10.1186/s13023-018-0801-y

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