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Article

Clinical involvement and protein expression in individuals with the FMR1 premutation.

American journal of medical genetics - 13 Mar 2000

Tassone F, Hagerman R J, Taylor A K, Mills J B, Harris S W, Gane L W, Hagerman P J

Abstract excerpt

Most individuals with the fragile X premutation are clinically unaffected; however, some show clinical manifestations, including learning difficulties, emotional problems, or even mental retardation. The basis of clinical involvement in these individuals is unknown. Premutation alleles are report...

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Source

Identifiers

PMID: 10748416
DOI: 10.1002/(sici)1096-8628(20000313)91:2<144::aid-ajmg14>3.0.co;2-v

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10748416-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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