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Article

Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation.

American journal of medical genetics - 28 May 1999

Tassone F, Hagerman R J, Gane L W, Taylor A K

Abstract excerpt

Studies of the FMR1 mutation in multiple tissues are important to further our understanding of CGG repeat expansion in development and of the frequency and possible clinical significance of inter-tissue heterogeneity in fragile X syndrome. With some exceptions, most cases reported have shown strong similarity of the mutation size and methylation status between tissues. However, there have been only a few studies...

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Identifiers

PMID: 10331600

Genes

FMR1

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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Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation.PMID 10331600Read ↗

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Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.Semantic proximity Read ↗

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