Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations

Donglei Zhang; Xian Zhang; Boyang Sun; Huiyuan Li; Feng Xue; Xiaofan Liu; Haiyan Sun; Long Chen; Li Qin; Yani Lin; Lei Zhang; Kun Ru; Renchi Yang

doi:10.1016/j.thromres.2020.05.027

Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations

Thromb Res. 2020 Aug:192:100-102. doi: 10.1016/j.thromres.2020.05.027. Epub 2020 May 20.

Authors

Donglei Zhang¹, Xian Zhang², Boyang Sun³, Huiyuan Li³, Feng Xue⁴, Xiaofan Liu⁴, Haiyan Sun⁴, Long Chen⁵, Li Qin¹, Yani Lin¹, Lei Zhang³, Kun Ru⁶, Renchi Yang⁷

Affiliations

¹ State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China; Tianjin Sino-US Diagnostics Co., Ltd., Tianjin, PR China.
² The Hematology Department of Zhongnan Hospital of Wuhan University, Wuhan City, Hubei, PR China.
³ State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China; CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, PR China; Tianjin Laboratory of Blood Disease Gene Therapy, Tianjin, PR China.
⁴ State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China.
⁵ Tianjin Sino-US Diagnostics Co., Ltd., Tianjin, PR China.
⁶ State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China; Tianjin Sino-US Diagnostics Co., Ltd., Tianjin, PR China. Electronic address: [email protected].
⁷ State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China; CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, PR China; Tianjin Laboratory of Blood Disease Gene Therapy, Tianjin, PR China. Electronic address: [email protected].

PMID: 32464451
DOI: 10.1016/j.thromres.2020.05.027

No abstract available

Keywords: Bleeding disorder; F11 gene; Factor XI deficiency; Mutation spectrum.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

China / epidemiology
Factor XI Deficiency* / diagnosis
Factor XI Deficiency* / genetics
Factor XI* / genetics
Humans
Mutation
RNA Splice Sites

Substances

RNA Splice Sites
Factor XI