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Article

A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.

The Journal of molecular diagnostics : JMD - 1 Sept 2008

Liang Shujian, Bass Harold N, Gao Hanlin, Astbury Caroline, Jamehdor Mehdi R, Qu Yong

Abstract excerpt

Diagnostic testing for the fragile X syndrome is designed to detect the most common mutation, a CGG expansion in the 5'-untranslated region of the fragile X mental retardation (FMRI) gene. PCR can determine the number of CGG repeats less than 100, whereas Southern analysis can detect large premutations, full mutations, and their methylation status. Bands larger than 5.8 kb observed via Southern analysis are...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18687789
DOI: 10.2353/jmoldx.2008.080059
PMCID: PMC2518742

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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