KEGG   VARIANT: 7066v1
Entry
7066v1                      Variant                                
Name
THPO mutation
Type
Gain of function
Gene
THPO  thrombopoietin [KO:K06854]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600044
Network
nt06518  JAK-STAT signaling
Disease
H01612  Essential thrombocythemia
Reference
PMID:10583217
  Authors
Ghilardi N, Wiestner A, Kikuchi M, Ohsaka A, Skoda RC
  Title
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene.
  Journal
Br J Haematol 107:310-6 (1999)
DOI:10.1046/j.1365-2141.1999.01710.x
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