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Article

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.

International journal of molecular sciences - 23 Aug 2021

Dardik Rima, Avishai Einat, Lalezari Shadan, Barg Assaf A, Levy-Mendelovich Sarina, Budnik Ivan, Barel Ortal, Khavkin Yulia, Kenet Gili, Livnat Tami

Abstract excerpt

INTRODUCTION: Hemophilia A (HA) is an X-linked bleeding disorder caused by factor VIII (FVIII) deficiency or dysfunction due to F8 gene mutations. HA carriers are usually asymptomatic because their FVIII levels correspond to approximately half of the concentration found in healthy individuals. However, in rare cases, a carrier may exhibit symptoms of moderate to severe HA primarily due to skewed inactivation of...

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Identifiers

PMID: 34445777
DOI: 10.3390/ijms22169074
PMCID: PMC8396640

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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