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Article

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.

Neurology - 1 Sept 1998

Planté-Bordeneuve V, Lalu T, Misrahi M, Reilly M M, Adams D, Lacroix C, Said G

Abstract excerpt

OBJECTIVE: To investigate the genotypic-phenotypic variations in a series of patients with familial amyloid polyneuropathy (FAP). BACKGROUND: Progress in molecular genetics has led to the identification of point mutations in the transthyretin (TTR) gene in FAP--a dominantly inherited neuropathy with a fatal outcome. These findings have modified the management of patients with small-fiber neuropathy and allow...

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Source

Identifiers

PMID: 9748014
DOI: 10.1212/wnl.51.3.708

Genes

FAP
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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