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Article

Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy.

FEBS letters - 13 Feb 1995

Strocchi P, Tang X M, Cambi F

Abstract excerpt

We report the molecular analysis of the transthyretin gene in a large Italian pedigree with familial amyloidotic polyneuropathy and demonstrate the presence of a Met30 mutation. The usefulness of the genetic analysis in the identification of presymptomatic persons and the diagnosis of individuals...

Topics

Amyloid Neuropathies
Base Sequence
DNA Primers
Female
Humans
Italy
Male
Methionine
Molecular Sequence Data
Mutation
Pedigree
Prealbumin

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Identifiers

PMID: 7867800
DOI: 10.1016/0014-5793(95)00046-c

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7867800-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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