排序方式: 共有1条查询结果,搜索用时 0 毫秒
1
1.
Levitus M Waisfisz Q Godthelp BC de Vries Y Hussain S Wiegant WW Elghalbzouri-Maghrani E Steltenpool J Rooimans MA Pals G Arwert F Mathew CG Zdzienicka MZ Hiom K De Winter JP Joenje H 《Nature genetics》2005,37(9):934-935
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA. 相似文献
1