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Article

New insights into Fragile X syndrome. Relating genotype to phenotype at the molecular level.

The FEBS journal - 1 Feb 2005

Pozdnyakova Irina, Regan Lynne

Abstract excerpt

Lack of functional Fragile X mental retardation protein (FMRP) is the primary cause of the Fragile-mental retardation syndrome in humans. In most cases, the disease results from transcriptional silencing of fragile mental retardation gene 1, fmr1, which encodes FMRP. However, a single missense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome. A...

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Identifiers

PMID: 15670167
DOI: 10.1111/j.1742-4658.2004.04527.x

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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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