KEGG   VARIANT: 11093v1
Entry
11093v1                      Variant                               
Name
ADAMTS13 mutation
Type
Loss of function
Gene
ADAMTS13  ADAM metallopeptidase with thrombospondin type 1 motif 13 [KO:K08627]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 274150
Network
nt06514  Coagulation cascade
Disease
H00225  Thrombotic thrombocytopenic purpura
Reference
PMID:17666281
  Authors
Tsai HM
  Title
Thrombotic thrombocytopenic purpura: a thrombotic disorder caused by ADAMTS13 deficiency.
  Journal
Hematol Oncol Clin North Am 21:609-32, v (2007)
DOI:10.1016/j.hoc.2007.06.003
Reference
PMID:11586351
  Authors
Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM
  Title
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
  Journal
Nature 413:488-94 (2001)
DOI:10.1038/35097008
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