KEGG   VARIANT: 3674v1
Entry
3674v1                      Variant                                
Name
ITGA2B mutation
Type
Loss of function
Gene
ITGA2B  integrin subunit alpha 2b [KO:K06476]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607759
Network
nt06548  Integrin signaling
Disease
H00226  Glanzmann thrombasthenia
Reference
  Authors
Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C
  Title
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
  Journal
Hum Mutat 31:237-46 (2010)
DOI:10.1002/humu.21179
Reference
  Authors
Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, Coller BS, Srivastava A, Seligsohn U
  Title
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin  (ITGA2B, ITGB3).
  Journal
Hum Mutat 27:359-69 (2006)
DOI:10.1002/humu.20304
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