KEGG   VARIANT: 5328v1
Entry
5328v1                      Variant                                
Name
PLAU gain-of-function mutation
Gene
PLAU  plasminogen activator, urokinase [KO:K01348]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191840
Network
nt06514  Coagulation cascade
Disease
H01235  Bleeding disorder platelet-type
Reference
PMID:18988861
  Authors
Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP
  Title
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.
  Journal
Blood 113:1543-6 (2009)
DOI:10.1182/blood-2008-08-175216
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