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Article

[Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families].

Revista medica de Chile - 1 Dec 1998

Alliende M A, Urzúa B, Valiente A, Cortés F, Curotto B, Rojas C

Abstract excerpt

BACKGROUND: The unequivocal diagnosis of fragile Xq syndrome is based in the direct analysis of the underlying FMR-1 gene mutation, that consists in an increased number of trinucleotide CGG repetitions. AIM: To study families with fragile Xq syndrome, using the Southern technique for the analysis of the mutation. SUBJECTS AND METHODS: Fifteen individuals, pertaining to 6 families with fragile Xq syndrome, were...

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Identifiers

PMID: 10349157

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Source receipt: pubmed, retrieved 7 Sept 2026.

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