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Article

Rare variants in the promoter of the fragile X syndrome gene (FMR1).

Molecular and cellular probes - 1 Apr 2000

Milà M, Castellví-Bel S, Sánchez A, Barceló A, Badenas C, Mallolas J, Estivill X

Abstract excerpt

Fragile X syndrome, the most common form of familial mental retardation, is mainly caused by the expansion of an unstable region of CGG repeats in the 5' untranslated region of the FMR1 (Fragile X Mental Retardation-1) gene. Molecular tools to detect an abnormal CGG expansion in FMR1 include Southern blot hybridization and PCR amplification. Southern blotting with the StB12.3 probe and Eco RI/Eag I double...

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Source

Identifiers

PMID: 10799273
DOI: 10.1006/mcpr.2000.0293

Genes

FMR1

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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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Rare variants in the promoter of the fragile X syndrome gene (FMR1).PMID 10799273Read ↗

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