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Article

Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.

Neuro-degenerative diseases - 1 Jan 2011

Zhang Yu, Deng Yu-Lei, Ma Jian-Fang, Zheng Lan, Hong Zhen, Wang Zhi-Quan, Sheng Cheng-Yu, Xiao Qin, Cao Li, Chen Sheng-Di

Abstract excerpt

BACKGROUND: Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused by mutations in the transthyretin (TTR) gene. Corresponding to the various transthyretin gene mutations and a wide range of geographical distribution, transthyretin-related hereditary amyloidosis presents diverse characteristics in genotype-phenotype correlation. OBJECTIVE/METHOD: Here, we identify the...

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Identifiers

PMID: 21135536
DOI: 10.1159/000321679

Genes

TTR

Variants

Provenance

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