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GENATLAS PHENOTYPE

last update : 10-11-2009

Symbol	GP1BB
Location	22q11.21
Name	giant platelet disorder 1B
Other name(s)	Bernard-Soulier syndrome B
Corresponding gene	GP1BB
related resource	Bernard-Soulier Syndrome database
Other symbol(s)	BBS
Main clinical features	mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia, platelets are large, and there is no platelet aggregation in response to ristocetin or addition of von Willebrand factor
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	disease

Gene product

Name	platelet glycoprotein 1B, beta, GATA binding site (GP1BB)

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