We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X‐inactivation was observed in both the proband and her clinically… Click to show full abstract
We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X‐inactivation was observed in both the proband and her clinically normal mother.
Keywords:
xp22 microdeletion;
demonstration novel;
inactivation;
novel xp22;
microdeletion cause;
cause familial
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
Link to full text (if available)
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recommendations!