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Article

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Blood - 15 Oct 2002

Valleix Sophie, Vinciguerra Christine, Lavergne Jean-Maurice, Leuer Marco, Delpech Marc, Negrier Claude

Abstract excerpt

This study describes the genetic mechanisms responsible for the de novo occurrence of severe and mild hemophilia A in monozygotic twin females. Both twins were found to carry a previously known factor VIII mutation (Tyr16Cys) in the heterozygous state which most probably arose in the paternal germ line. Both twins showed concordant skewing of X inactivation toward the maternally derived normal X chromosome, the...

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Identifiers

PMID: 12351418
DOI: 10.1182/blood-2002-01-0277

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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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