Novel mutations in ADAMTS13 CUB domains cause abnormal pre-mRNA splicing and defective secretion of ADAMTS13.

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Title: Novel mutations in ADAMTS13 CUB domains cause abnormal pre-mRNA splicing and defective secretion of ADAMTS13.
Authors: Jiang Y; Department of Hematology, The Affiliated Yijishan Hospital of Wannan Medical College, Wuhu, China.; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.; Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Huang D; Department of Hematology, The Affiliated Yijishan Hospital of Wannan Medical College, Wuhu, China., Kondo Y; Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Jiang M; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China., Ma Z; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China., Zhou L; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Department of Hematology, Affiliated Hospital of Nantong University, Nantong, China., Su J; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China., Bai X; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.; State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou, China., Ruan C; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.; State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou, China., Wang Z; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China., Xia L; Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.; Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.; Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou, China.
Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2020 Apr; Vol. 24 (7), pp. 4356-4361. Date of Electronic Publication: 2020 Feb 19.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1582-4934 (Electronic) Linking ISSN: 15821838 NLM ISO Abbreviation: J Cell Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1582-4934
DOI:10.1111/jcmm.15025