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

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

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. Howev...

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Bibliographic Details
Main Authors: Rima Dardik, Einat Avishai, Shadan Lalezari, Assaf A. Barg, Sarina Levy-Mendelovich, Ivan Budnik, Ortal Barel, Yulia Khavkin, Gili Kenet, Tami Livnat
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Molecular Sciences
Subjects:
hemophilia
carrier
X-chromosome inactivation
non-random
mutation
monogenic disease
Online Access:https://www.mdpi.com/1422-0067/22/16/9074

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https://www.mdpi.com/1422-0067/22/16/9074

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