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Article

Notes on the population genetics of fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Vianna-Morgante A M, Otto P A

Abstract excerpt

Our analysis of fragile X-inactivation in normal and mentally retarded heterozygotes led us to conclude that a fraction of female carriers of the imprinted (fully mutated) allele is phenotypically normal as a consequence of X-inactivation. Taking this into account, we derived equilibrium equations for the fragile X [fra(X)] genotype frequencies. We also showed that small variations in the value of s (selection...

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Identifiers

PMID: 1605208
DOI: 10.1002/ajmg.1320430152

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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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Notes on the population genetics of fragile X syndrome.PMID 1605208Read ↗

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