Article
[Advance in research on causative genes of xeroderma pigmentosum and related diseases].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016
Sun Zhonghui, Guo Yunyi, Zhang Jia, Zhuang Yin, Li Ming, Yao Zhirong
Abstract excerpt
Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such...
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