The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression. Issue 198 (February 2021)
- Record Type:
- Journal Article
- Title:
- The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression. Issue 198 (February 2021)
- Main Title:
- The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression
- Authors:
- Lu, Zhengjing
Zhang, Huayang
Chen, Changming
Wu, Wenman
Wei, Hongying - Abstract:
- Highlights: Mutations in F9 gene may either hinders synthesis and secretion of FIX, or impairs its function. The novel mutation p.Asp315Tyr happens to affect one critical residue of catalytic triad. The novel mutation p.Asp315Tyr impairs the proper folding and/or destabilize the overall structure of FIX.
- Is Part Of:
- Thrombosis research. Issue 198(2021)
- Journal:
- Thrombosis research
- Issue:
- Issue 198(2021)
- Issue Display:
- Volume 198, Issue 198 (2021)
- Year:
- 2021
- Volume:
- 198
- Issue:
- 198
- Issue Sort Value:
- 2021-0198-0198-0000
- Page Start:
- 23
- Page End:
- 25
- Publication Date:
- 2021-02
- Subjects:
- Hemophilia B -- F9 -- Asp102 -- Impaired secretion
Thrombosis -- Periodicals
616.135 - Journal URLs:
- http://www.sciencedirect.com/science/journal/00493848 ↗
http://www.elsevier.com/journals ↗ - DOI:
- 10.1016/j.thromres.2020.11.024 ↗
- Languages:
- English
- ISSNs:
- 0049-3848
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 8820.365000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 15953.xml