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Article

New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online.

Human mutation - 1 Jan 1998

Misrahi A M, Plante V, Lalu T, Serre L, Adams D, Lacroix D C, Saïd G

Abstract excerpt

Mutations of the transthyretin (TTR) gene are associated with familial amyloidotic polyneuropathy (FAP). Two new mutations were detected in French patients with TTR amyloidosis. The first patient was a 72 year old man who presented with severe and rapidly evolving sensory motor polyneuropathy of the 4 limbs, a bilateral carpal tunnel syndrome and a restrictive cardiomyopathy. His father died after a clinical...

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Source

Identifiers

PMID: 10627135
DOI: 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU15>3.0.CO;2-7

Genes

TTR
FAP

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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