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Article

Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome.

Genetic testing and molecular biomarkers - 1 Nov 2012

Curtis-Cioffi Karen M Carvalho, Rodrigueiro Debora Aparecida, Rodrigues Valter Curi, Cicarelli Regina M Barretto, Scarel-Caminaga Raquel Mantuaneli

Abstract excerpt

The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB is laborious and costly, some adaptations in the polymerase chain reaction...

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Source

Identifiers

PMID: 23101592
DOI: 10.1089/gtmb.2012.0158

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23101592-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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