Ontology highlight
ABSTRACT:
SUBMITTER: Guan Y
PROVIDER: S-EPMC5125832 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Guan Yuting Y Ma Yanlin Y Li Qi Q Sun Zhenliang Z Ma Lie L Wu Lijuan L Wang Liren L Zeng Li L Shao Yanjiao Y Chen Yuting Y Ma Ning N Lu Wenqing W Hu Kewen K Han Honghui H Yu Yanhong Y Huang Yuanhua Y Liu Mingyao M Li Dali D
EMBO molecular medicine 20160502 5
The X-linked genetic bleeding disorder caused by deficiency of coagulator factor IX, hemophilia B, is a disease ideally suited for gene therapy with genome editing technology. Here, we identify a family with hemophilia B carrying a novel mutation, Y371D, in the human F9 gene. The CRISPR/Cas9 system was used to generate distinct genetically modified mouse models and confirmed that the novel Y371D mutation resulted in a more severe hemophilia B phenotype than the previously identified Y371S mutati ...[more]