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Article

Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.

Journal of human genetics - 1 May 2011

Renault Nisa K E, Renault Marc P, Copeland Emily, Howell Robin E, Greer Wenda L

Abstract excerpt

The gene dosage inequality between females with two X-chromosomes and males with one is compensated for by X-chromosome inactivation (XCI), which ensures the silencing of one X in every somatic cell of female mammals. XCI in humans results in a mosaic of two cell populations: those expressing the maternal X-chromosome and those expressing the paternal X-chromosome. We have previously shown that the degree of...

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PMID: 21412246
DOI: 10.1038/jhg.2011.25

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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