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Article

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.

Proceedings of the National Academy of Sciences of the United States of America - 1 May 1992

Morton N E, Macpherson J N

Abstract excerpt

A model is developed to account for recent molecular observations. It postulates four alleles: normal (N), small rather stable insert (S), larger, unstable insert (Z), and large insert (L). The last-named allele causes the fragile-X phenotype, inactivation of the FMR1 locus by methylation, and mental impairment; the FMR1 locus (for fragile-X mental retardation locus 1) resides in the FRAXA region. When this model...

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Source

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Identifiers

PMID: 1570349
DOI: 10.1073/pnas.89.9.4215
PMCID: PMC525664

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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