Title : Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.

Pub. Date : 2008 Nov

PMID : 18815197






1 Functional Relationships(s)
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1 As a consequence, platelet aggregation to 1.2 mg/mL of ristocetin is slightly impaired and flow cytometry reveals a reduced binding of monoclonals directed against N-terminal epitopes of the GPIbalpha. Ristocetin glycoprotein Ib platelet subunit alpha Homo sapiens