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Article

A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.

Journal of medical genetics - 1 Jan 1998

Yamamoto K, Ikeda S, Hanyu N, Takeda S, Yanagisawa N

Abstract excerpt

In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the affected parent in 68 parent-child pairs (including data on assumed age at onset and on...

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Source

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Identifiers

PMID: 9475090
DOI: 10.1136/jmg.35.1.23
PMCID: PMC1051182

Genes

FAP
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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A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.PMID 9475090Read ↗

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