Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.

Brain : a journal of neurology - 1 Aug 1995

Reilly M M, Adams D, Booth D R, Davis M B, Said G, Laubriat-Bianchin M, Pepys M B, Thomas P K, Harding A E

Abstract excerpt

We investigated 99 patients from 64 European families (51 French, 11 British, one Italian and one Spanish) with suspected familial amyloid polyneuropathy (FAP) for transthyretin (TTR) gene mutations. Thirty-nine families were found to have point mutations causing the following amino acid substitutions: Met30 (28 families), Tyr77 (five), Arg 50 (one), Ala49 (one), Gln89 (one), Ala60 (one) and one each with...

Topics

Adult
Aged
Amyloidosis
Base Sequence
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Peripheral Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prealbumin

Source

Identifiers

PMID: 7655883
DOI: 10.1093/brain/118.4.849

Genes

FAP
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7655883-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.PMID 7655883Read ↗

Transthyretin gene mutations in British and French patients with amyloid neuropathy.Semantic proximity Read ↗

Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy.Semantic proximity Read ↗

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosisSemantic proximity Read ↗

Transthyretin familial amyloid polyneuropathy.Semantic proximity Read ↗

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.Semantic proximity Read ↗

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.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 ↗

Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene.Semantic proximity Read ↗

Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.Semantic proximity Read ↗

Transthyretin-Related Familial Amyloidotic PolyneuropathySemantic proximity Read ↗

Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.