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Article

Clinical, cytogenetic, and molecular analysis of three families with FRAXE.

Journal of medical genetics - 1 Jan 1997

Barnicoat A J, Wang Q, Turk J, Green E, Mathew C G, Flynn G, Buckle V, Hirst M, Davies K, Bobrow M

Abstract excerpt

The probe StB12.3 has been used to screen the FMR-1 gene in 42 pedigrees with a distal Xq fragile site for expansion of the CCG repeat and aberrant methylation of the FRAXA locus. Four families did not have a FRAXA mutation and were investigated further. Fluorescent in situ hybridisation (FISH) and molecular analyses showed that three of these families had an expansion at FRAXE and one at FRAXE. Detailed...

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Identifiers

PMID: 9032643
DOI: 10.1136/jmg.34.1.13
PMCID: PMC1050840

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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