Article ID Journal Published Year Pages File Type
8312809 Clinica Chimica Acta 2013 4 Pages PDF
Abstract
This is a rare report of X-linked GSD IXa manifested in a female carrier with skewed XCI. Skewed XCI can play a key role in the manifestation of X-linked recessive disorders in female carriers.
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Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
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