KEGG   VARIANT: 5054v1
Entry
5054v1                      Variant                                
Name
SERPINE1 mutation
Type
Loss of function
Gene
SERPINE1  serpin family E member 1 [KO:K03982]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 173360
Network
nt06514  Coagulation cascade
Disease
H01106  Plasminogen activator inhibitor type 1 deficiency
Reference
  Authors
Mehta R, Shapiro AD
  Title
Plasminogen activator inhibitor type 1 deficiency.
  Journal
Haemophilia 14:1255-60 (2008)
DOI:10.1111/j.1365-2516.2008.01834.x
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