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Article

Fragile X syndrome: molecular analysis reveals a new mechanism of mutation in human genetic diseases.

Annals of medicine - 1 Dec 1992

Poustka A

Abstract excerpt

The fragile X syndrome belongs to the most common genetic diseases and has a prevalence of one in every 2000 children. The syndrome is named after the fragile site in q27.3 on the X chromosome. The molecular cloning of the DNA containing the fragile site has resulted in the identification of a heritable unstable DNA sequence revealing a new mechanism of mutation in human genetic disorders. This DNA sequence...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 1485937
DOI: 10.3109/07853899209166994

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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