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Article

Molecular analysis of fragile X syndrome.

Current protocols in human genetics - 21 Jan 2014

Basehore Monica J, Friez Michael J

Abstract excerpt

The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region, resulting in loss of FMR1 expression. Males with loss of FMR1 protein are expected to be affected by Fragile X syndrome,...

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Source

Identifiers

PMID: 24510684
DOI: 10.1002/0471142905.hg0905s80

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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