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Article

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

Biochemical and biophysical research communications - 31 Jan 1992

Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S

Abstract excerpt

We characterized the mutation associated with familial amyloidotic polyneuropathy in a Japanese patient. Sequence analysis of polymerase chain reaction-amplified exons of the transthyretin gene revealed a novel point mutation resulting in a substitution of arginine for glycine at position 47. The...

Topics

Adult
Alleles
Amino Acid Sequence
Amyloidosis
Base Sequence
Exons
Female
Genetic Carrier Screening
Genotype
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nervous System Diseases

Oligodeoxyribonucleotides

Pedigree

Polymerase Chain Reaction

Prealbumin

Source

Identifiers

PMID: 1734866
DOI: 10.1016/0006-291x(92)91763-g

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1734866-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.PMID 1734866Read ↗

Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).Semantic proximity Read ↗

A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy.Semantic proximity Read ↗

Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues.Semantic proximity Read ↗

Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.Semantic proximity Read ↗

A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.Semantic proximity Read ↗

A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.Semantic proximity Read ↗

A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.Semantic proximity Read ↗

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.Semantic proximity Read ↗

A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.Semantic proximity Read ↗

A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.Semantic proximity Read ↗

Transthyretin-Related Familial Amyloidotic PolyneuropathySemantic proximity Read ↗

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