Article
Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.
American journal of human genetics - 1 Mar 1999
Plenge R M, Tranebjaerg L, Jensen P K, Schwartz C, Willard H F
Abstract excerpt
X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inactivation patterns with the mutation on the inactive X chromosome in nearly 100% of the individual's...
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