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Article

Skewed X inactivation in Lesch-Nyhan disease carrier females.

Journal of human genetics - 1 Dec 2017

Torres Rosa J, Puig Juan G

Abstract excerpt

X chromosome inactivation (XCI) ratios of normal females can range from a highly skewed ratio of 0:100 to a 50:50 ratio. In several X-linked disorders, female carriers present skewed X inactivation. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an X-linked disorder. Males are affected and present with the complete Lesch-Nyhan disease (LND) or with a partial phenotype (Lesch-Nyhan variant,...

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Identifiers

PMID: 28904386
DOI: 10.1038/jhg.2017.88

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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