Condition: Von Willebrand disease, platelet type
rs121908062 in
GP1BA;CHRNE gene and
Von Willebrand disease, platelet type
PMID 8486780 1993 Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.
PMID 14521605 2003 Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.
PMID 8384898 1993 Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
PMID 2052556 1991 Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.