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XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
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Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder.
The variant form of xeroderma pigmentosum (XPV) is caused by mutations in the DNA polymerase eta gene POLH. Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair. This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation. So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites |
DNA repair proteins related with XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV (#278750 ) disease:
Following keywords are related to XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV:
Last modification of this entry: Oct. 12, 2010.
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