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Article

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.

Genetic testing - 1 Jan 2002

Houdayer Claude, Lourdaux Julie, Billette de Villemeur Thierry, Royer-Legrain Ghislaine, Bahuau Michel, Bonnefont Jean-Paul, Feldmann Delphine, Couderc Rémy

Abstract excerpt

Fragile X syndrome linked to the FRAXA locus is the most common inherited genetic disease accounting for mental retardation and is usually caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene on the X chromosome. Despite its robustness, Southern blot is not suitable for large-scale routine screening as part of neuropediatric practice. PCR appears as an interesting alternative, and...

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Source

Identifiers

PMID: 12215255
DOI: 10.1089/10906570260199410

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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