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Article

Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.

Journal of the neurological sciences - 15 Apr 2008

Liu Yo-Tsen, Lee Yi-Chung, Yang Chih-Chao, Chen Mai-Ling, Lin Kon-Ping

Abstract excerpt

BACKGROUND: Transthyretin (TTR) variants of familial amyloid neuropathies (FAP) form a heterogenous group of autosomal dominantly inherited diseases. TTR gene analysis in several nationalities (Japanese, Portuguese, French, and British) has shown many distinguishing characteristics in the genotype-phenotype correlation. In Chinese, there are only a few reports of private TTR gene mutations belonging to single...

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Source

Identifiers

PMID: 18022643
DOI: 10.1016/j.jns.2007.10.011

Genes

TTR
FAP

Provenance

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