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Article

Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred.

Brain : a journal of neurology - 1 Oct 1992

Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T

Abstract excerpt

A Japanese kindred with dominantly inherited amyloid polyneuropathy, commonly called familial amyloid polyneuropathy (FAP), has been identified. Amyloid protein was transthyretin (TTR) related and the patients were heterozygous for the mutant gene encoding TTR with a single amino acid substitution of cysteine for tyrosine at position 114. This family originated in Nagasaki Prefecture, Japan, and 12 of the 36...

Topics

Adult
Amino Acid Sequence
Amyloid
Amyloidosis
Autonomic Nervous System Diseases
Blood Pressure
Cysteine
Heart Rate
Humans
Japan
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nervous System Diseases

Pedigree

Peripheral Nervous System Diseases

Prealbumin

Source

Identifiers

PMID: 1330202
DOI: 10.1093/brain/115.5.1275

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1330202-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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