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Article

A mouse model of the human Fragile X syndrome I304N mutation.

PLoS genetics - 1 Dec 2009

Zang Julie B, Nosyreva Elena D, Spencer Corinne M, Volk Lenora J, Musunuru Kiran, Zhong Ru, Stone Elizabeth F, Yuva-Paylor Lisa A, Huber Kimberly M, Paylor Richard, Darnell Jennifer C, Darnell Robert B

Abstract excerpt

The mental retardation, autistic features, and behavioral abnormalities characteristic of the Fragile X mental retardation syndrome result from the loss of function of the RNA-binding protein FMRP. The disease is usually caused by a triplet repeat expansion in the 5'UTR of the FMR1 gene. This lea...

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Source

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Identifiers

PMID: 20011099
DOI: 10.1371/journal.pgen.1000758
PMCID: PMC2779495

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20011099-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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