Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation.
作者信息
Zheng Jiayong, Ma Weide, Xie Bingshou, Zhu Miaoyong, Zhang Chenhui, Li Jianxin, Wang Yingyu, Wang Mingshan, Jin Yanhui
机构信息
aLaboratory for Gynecology and Obstetrics, The People's Hospital of Wenzhou bDepartment of Hematology, The People's Hospital of Wenzhou cDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
出版信息
Blood Coagul Fibrinolysis. 2015 Dec;26(8):977-8. doi: 10.1097/MBC.0000000000000324.
PMID:26517067
Abstract
摘要
Zotero 插件