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Editorial
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Volume 338:325-328 January 29, 1998 Number 5
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X Inactivation in Females with X-Linked Disease

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 by Parolini, O.
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X-linked recessive disorders affect males, whereas female carriers are generally spared. This is due in part to the random inactivation in females of one of the two X chromosomes in all somatic cells. Normal females are thus a mosaic of two cell populations, each expressing the alleles from one X chromosome or the other. Thus, in female carriers of an X-linked mutation, approximately 50 percent of cells on average have the normal allele on the active X chromosome (with the mutant allele being on the inactive X chromosome), and these functionally normal cells are generally sufficient to spare females from . . . [Full Text of this Article]

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