Title : Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation.

Pub. Date : 2000 Oct

PMID : 10996832






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 This mutation, CTC:wild-type to CCC:mutant, is similar to that of another African American family where the resulting leucine to proline substitution in the 5(th) leucine-rich repeat of GP Ib alpha is responsible for the observed BSs phenotype. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens