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Article

Screening for FXTAS in 95 Spanish patients negative for Huntington disease.

Genetic testing - 1 Mar 2008

Rodriguez-Revenga Laia, Santos M Mònica, Sánchez Aurora, Pujol Montserrat, Gómez-Anson Beatriz, Badenas Celia, Jiménez Dolores, Madrigal Irene, Milà Montserrat

Abstract excerpt

Fragile X syndrome is the most common form of hereditary mental retardation. The molecular basis of this syndrome is mainly a CGG expansion in the 5' untranslated region of the FMR1 gene. Expansions with more than 200 CGG repeats abolish gene expression causing the classical fragile X phenotype. Premutation carriers (55-200 CGG) have normal cognitive function with increased risk of developing premature ovarian...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18373410
DOI: 10.1089/gte.2007.0074

Genes

FMR1

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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