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Article

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.

Clinical chemistry - 1 Aug 2006

Zhou Youyou, Lum Josephine M S, Yeo Gare-Hoon, Kiing Jennifer, Tay Stacey K H, Chong Samuel S

Abstract excerpt

BACKGROUND: Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the FMR1 gene. Southern blot analysis is the most commonly used me...

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Source

Identifiers

PMID: 16793928
DOI: 10.1373/clinchem.2006.068593

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16793928-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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