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Article

Complex behavior of simple repeats: the fragile X syndrome.

Pediatric research - 1 Nov 1995

Oostra B A, Halley D J

Abstract excerpt

The fragile X syndrome of mental retardation is one of the most common genetic diseases. The mutation causing this disease was the first of a new class of mutations involving repeat sequences disturbing gene function. Fragile X mutations consist of an expansion of a CGG trinucleotide repeat in the FMR1 gene, which is inactivated as a result of this expansion. The lack of FMR1 protein is believed to be responsible...

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Source

Identifiers

PMID: 8552426
DOI: 10.1203/00006450-199511000-00001

Genes

FMR1

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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