A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop)
about
Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation.A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersAltered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.Ebola Virus Disease in Humans: Pathophysiology and Immunity.Targeting activated protein C to treat hemophilia.Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?Thrombotic and Hemorrhagic Conditions Due to a Gain of Function of Coagulation Proteins: A Special Type of Clotting Disorders.Effect of five therapeutic strategies on the coagulation defect induced by the thrombomodulin c.1611C>A mutation.
P2860
Q35126279-7F83758F-14FE-44B7-ABEE-575679D22339Q37243310-F6D6101D-37CE-4E4E-8789-BCC0E14E7E81Q37319913-1A0CD6D6-8D85-4EBB-BFD1-DD9675103844Q38707770-BF5D2590-3CFE-496A-B24E-B21DBDBF22F1Q39385967-7944695A-7FF4-49D9-8E97-38FE41A567B4Q45865395-8DB5CEFE-3632-4964-AA2C-83392750C0FCQ47395469-05D09136-BA71-49D8-A3B5-CB49886E1B5DQ47994202-CFF51E16-E63E-43CE-AC6E-7AFDE449CFE9Q53458479-B3A8550F-C49A-4C61-8A7B-006B25C64C79
P2860
A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop)
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@ast
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@en
A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin
@nl
type
label
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@ast
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@en
A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin
@nl
prefLabel
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@ast
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@en
A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin
@nl
P2093
P2860
P1433
P1476
A hereditary bleeding disorder ...... thrombomodulin (p.Cys537Stop)
@en
P2093
James A Huntington
Jonathan Langdown
Roger J Luddington
P2860
P304
P356
10.1182/BLOOD-2014-02-557538
P407
P577
2014-07-21T00:00:00Z