Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations
- 19 May 2020
- journal article
- letter
- Published by Elsevier BV in Thrombosis Research
- Vol. 192, 100-102
- https://doi.org/10.1016/j.thromres.2020.05.027
Abstract
No abstract availableKeywords
Funding Information
- National Natural Science Foundation of China (81803562, 81700115, 81670118)
- Tianjin Science and Technology Committee (17ZXFWGX00110, 16JCYBJC26700, 18JCZDJC35000, 15ZXLCSY00010)
- CAMS Innovation Fund for Medical Sciences (2017-I2M-3-018, 2016-I2M-1-018, 2016-I2M-1-002)
- the national key Research and Development Program of China (2016YFC0901503)
This publication has 9 references indexed in Scilit:
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- Structure and function of factor XIBlood, 2010
- Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defectThrombosis and Haemostasis, 2008
- Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis toolsHuman Mutation, 2005
- Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)Journal of Thrombosis and Haemostasis, 2005
- Structural interpretation of 42 mutations causing factor XI deficiency using homology modelingJournal of Thrombosis and Haemostasis, 2004
- Dominant factor XI deficiency caused by mutations in the factor XI catalytic domainBlood, 2004