Xeroderma pigmentosum, variant type

Common Name(s)

Xeroderma pigmentosum, variant type

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, see XPA ({278700}). Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair ({8:Lehman et al., 1975}). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation ({9:Masutani et al., 1999}). 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 ({2:Cleaver et al., 1980}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Xeroderma pigmentosum, variant type" for support, advocacy or research.

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Scientific Literature

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