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Article

[Molecular and genetic features of fragile X syndrome].

Revista medica de Chile - 1 Jul 1996

Jara L, Avendaño I, Aspillaga M, Blanco R

Abstract excerpt

The fragile-X syndrome is the most frequent cause of sexlinked mental retardation. In the majority of the cases the mutation responsible for the Martin Bell syndrome is produced when an expansion of the (CGG)n repetition is present in the region 5' of the exón 1 of the gene for X-fragile mental retardation 1 (FMR1), together with a hipermethylation in the CpG promoter region of the gene. The result of this...

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Identifiers

PMID: 9138377

Genes

FMR1

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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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