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Article

Transthyretin gene mutations in British and French patients with amyloid neuropathy.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 1993

Bhatia K, Reilly M, Adams D, Davis M B, Hawkes C H, Thomas P K, Said G, Harding A E

Abstract excerpt

Five patients, two British and three French, with late onset amyloid neuropathy were found to have mutations of the transthyretin (TTR) gene associated with the Portuguese and German types of familial amyloid polyneuropathy. Familial amyloid polyneuropathy is rare in the United Kingdom and has not previously been defined at a molecular genetic level. None of the patients had a history of affected antecedents; the...

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Identifiers

PMID: 8509786
DOI: 10.1136/jnnp.56.6.694
PMCID: PMC489622

Genes

TTR

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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