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Article

Premature ovarian failure in the fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Sherman S L

Abstract excerpt

The full mutation leading to the fragile X syndrome is a dynamic trinucleotide repeat located in the 5' untranslated region of the FMR1 gene. The premutation allele contains approximately 60 to 199 repeats, is unstable, and originally not considered detrimental; that is, there did not appear to be a phenotype consequence of the long repeat tract. However, in the late 1980s and early 1990s, preliminary findings...

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Source

Identifiers

PMID: 11449487
DOI: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J

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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