KEGG   VARIANT: 3690v1
Entry
3690v1                      Variant                                
Name
ITGB3 mutation
Type
Loss of function
Gene
ITGB3  integrin subunit beta 3 [KO:K06493]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 173470
Network
nt06535  Efferocytosis
Disease
H00226  Glanzmann thrombasthenia
H01235  Bleeding disorder platelet-type
Reference
PMID:1371279
  Authors
Bajt ML, Ginsberg MH, Frelinger AL 3rd, Berndt MC, Loftus JC
  Title
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site.
  Journal
J Biol Chem 267:3789-94 (1992)
Reference
  Authors
Gresele P, Falcinelli E, Giannini S, D'Adamo P, D'Eustacchio A, Corazzi T, Mezzasoma AM, Di Bari F, Guglielmini G, Cecchetti L, Noris P, Balduini CL, Savoia A
  Title
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian  families.
  Journal
Haematologica 94:663-9 (2009)
DOI:10.3324/haematol.2008.002246
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