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Article

A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.

Archives of pathology & laboratory medicine - 1 Jan 2008

Thyagarajan Bharat, Bower Matthew, Berger Michael, Jones Sidney, Dolan Michelle, Wang Xinjing

Abstract excerpt

Fragile X syndrome is the most common cause of inherited mental retardation among males. In most cases, the molecular basis of fragile X syndrome is the expansion and subsequent methylation of a CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. Laboratory diagnosis usually relies on a combination of Southern blot and polymerase chain reaction analyses. In...

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Source

Identifiers

PMID: 18181681
DOI: 10.5858/2008-132-95-ANPITF

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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