Title : Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.

Pub. Date : 1992 Jan 15

PMID : 1730088






1 Functional Relationships(s)
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1 We now report an autosomal dominant variant of Bernard-Soulier disease associated with the heterozygous substitution of phenylalanine for a highly conserved leucine residue within the GPIb alpha leucine tandem repeat. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens