换一批A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
第一作者：
Isabelle,Tournier
第一单位：
Inserm U614, Federate Institute for Multidisciplinary Research on Peptides, Faculty of Medicine, University of Rouen, Department of Genetics and Institute for Biomedical Research, Rouen University Hospital, Rouen, France.
作者：
主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);结直肠肿瘤, 遗传性非息肉性(Colorectal Neoplasms, Hereditary Nonpolyposis);家庭(Family);人类(Humans);MutS同源蛋白2(MutS Homolog 2 Protein);突变(Mutation);核蛋白质类(Nuclear Proteins);RNA剪接(RNA Splicing)
DOI
10.1002/humu.20796
PMID
18561205
发布时间
2022-03-11
- 浏览88
Human mutation
1412-24页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
