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Article

Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles.

Human biology - 1 Dec 2008

Arrieta I, Télez M, Huerta I, Flores P, Criado B, Ramírez J M, Barasoain M, Gónzalez A J

Abstract excerpt

Fragile X syndrome is the most common form of inherited mental retardation. The molecular basis is usually the unstable expansion of a CGG repeat in the FMR1 gene. We previously analyzed a sample of two Basque valleys. In the present work we extend the study to another five isolated valleys. The...

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Source

Identifiers

PMID: 19728537
DOI: 10.3378/1534-6617-80.6.593

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19728537-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles.PMID 19728537Read ↗

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Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.Semantic proximity Read ↗

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