Article
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.
Nature genetics - 1 Nov 1997
Plenge R M, Hendrich B D, Schwartz C, Arena J F, Naumova A, Sapienza C, Winter R M, Willard H F
Abstract excerpt
X-chromosome inactivation is the process by which a cell recognizes the presence of two copies of an X chromosome early in the development of XX embryos and chooses one to be active and one to be inactive. Although it is commonly believed that the initiation of X inactivation is random, with an equal probability (50:50) that either X chromosome will be the inactive X in a given cell, significant variation in the...
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