Article
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
The British journal of dermatology - 1 Apr 2015
Sun Z, Zhang J, Guo Y, Ni C, Liang J, Cheng R, Li M, Yao Z
Abstract excerpt
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype-phenotype analysis of XP are rarely reported in the Chinese Han population. OBJECTIVES: To investigate the mutational spectrum of XP in a Chinese Han population, to...
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