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Article

Compound heterozygosity at the FMR1 gene.

Genetic testing - 1 Jan 2001

Hegde M R, Fawkner M, Chong B, McGaughran J, Gilbert D, Love D R

Abstract excerpt

Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated region of the FMR1 gene; this number of repeats is defined as a full mutation. Repeats that number 50-200 usually define those with premutations and are termed unaffected carriers. We report here a compound heterozygous female who carried CGG repeats in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11551100
DOI: 10.1089/109065701753145600

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence.

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Compound heterozygosity at the FMR1 gene.PMID 11551100Read ↗

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