DNA helicases in inherited human disorders

被引:115
作者
Ellis, NA
机构
[1] Laboratory of Human Genetics, New York Blood Center, New York, NY 10021
关键词
D O I
10.1016/S0959-437X(97)80149-9
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
引用
收藏
页码:354 / 363
页数:10
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