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Dermatol Surg. 1997 Jun;23(6):447-55.

The molecular basis of xeroderma pigmentosum.

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1
Department of Dermatology, Indiana University, Indianapolis, USA.

Abstract

BACKGROUND:

Xeroderma pigmentosum is an extremely rare, autosomal recessive disease characterized by a more than 1000-fold increase in nonmelanoma skin cancer. Individuals with this disease can be divided into eight complementation groups: A-G and V for variant. Each one represents a different genetic defect in DNA repair.

OBJECTIVE:

To review the molecular basis of xeroderma pigmentosum.

RESULTS:

Deficiencies in various gene products in the nucleotide excision repair pathway cause xeroderma pigmentosum in complementation groups A-G. The molecular basis of the variant group remains to be elucidated.

CONCLUSIONS:

Research into the genetic defects underlying xeroderma pigmentosum have led to an increased understanding of nucleotide excision repair.

PMID:
9217796
[Indexed for MEDLINE]
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