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Article

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.

Human genetics - 1 Apr 2004

Allen Emily G, He Weiya, Yadav-Shah Maneesha, Sherman Stephanie L

Abstract excerpt

Fragile X syndrome, the most common form of inherited mental retardation, is caused by hyperexpansion and hypermethylation of a CGG repeat tract in the 5' untranslated region of the FMR1 gene. This methylation causes the gene to be transcriptionally silenced. In addition to the common allele form with less than 41 repeats, there are two other allelic forms of the FMR1 gene that are unmethylated: premutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14758538
DOI: 10.1007/s00439-004-1086-x

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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A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.PMID 14758538Read ↗

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Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.Semantic proximity Read ↗

Quantitative comparison of FMR1 gene expression in normal and premutation alleles.Semantic proximity Read ↗

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Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.Semantic proximity Read ↗

The role of AGG interruptions in the transcription of FMR1 premutation alleles.Semantic proximity Read ↗

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