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Article

Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets.

Microscopy research and technique - 1 May 2002

Kaufmann Walter E, Cohen Sonia, Sun Hong-Tao, Ho George

Abstract excerpt

Fragile X syndrome (FraX) is one of the most prevalent genetic causes of mental retardation. FraX is associated with an unstable expansion of a polymorphism within the 5' untranslated region of the FMR1 gene. The main consequence of this mutation is a reduction in the levels of the gene product (FMRP). FMRP is an RNA-binding protein with multiple spliced variants (isoforms) and high levels of expression in a...

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Identifiers

PMID: 12112448
DOI: 10.1002/jemt.10066

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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