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Article

The fragile X premutation: into the phenotypic fold.

Current opinion in genetics & development - 1 Jun 2002

Hagerman Randi J, Hagerman Paul J

Abstract excerpt

Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1) are known to contribute to the fragile X phenotype through genetic instability and transmission of full mutation alleles (>200 repeats). There is now mounting evidence that the premutation alleles themselves contribute to clinical involvement, including premature ovarian failure among female carriers and a new tremor/ataxia...

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Source

Identifiers

PMID: 12076670
DOI: 10.1016/s0959-437x(02)00299-x

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.Semantic proximity Read ↗

FMR1 and the fragile X syndrome: human genome epidemiology review.Semantic proximity Read ↗

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