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1997•Nature GeneticsRequires access

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

Robert M. Plenge, Brian Hendrich, Charles E. Schwartz, J. Fernando Arena, Anna K. Naumova, Carmen Sapienza, Robin M. Winter, Huntington F. Willard

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Key concepts: X-inactivation, XIST, Skewed X-inactivation, Biology, X chromosome, Genetics, Dosage compensation, Allele

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A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation — Research Paper | ScholarLens