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Article

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.

Molecular and cellular probes - 1 Jan 2000

Handt Maximilian, Epplen Andrea, Hoffjan Sabine, Mese Kemal, Epplen Jörg T, Dekomien Gabriele

Abstract excerpt

Fragile X syndrome (FXS) is a common cause of intellectual disability, developmental delay and autism spectrum disorders. This syndrome is due to a functional loss of the FMR1 gene product FMRP, and, in most cases, it is caused by CGG repeat expansion in the FMR1 promoter. Yet, also other FMR1 mutations may cause a FXS-like phenotype. Since standard molecular testing does not include the analysis of the FMR1...

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Topics

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Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Nucleic Acid Denaturation

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Source

Identifiers

PMID: 25171808
DOI: 10.1016/j.mcp.2014.08.003

Genes

FMR1
AFF2

Variants

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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