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Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.378
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.
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Keywords:
xp22 microdeletion;
demonstration novel;
inactivation;
novel xp22 ... See more keywords