Title : Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype.

Pub. Date : 2013 Jul

PMID : 24498605






1 Functional Relationships(s)
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1 We newly identified three mutations: two mutations in highly conserved Gly-Phe-Phe-Lys-Arg sequence in juxtamembrane region of alphaIIb, p.Gly991Cys and p.Phe993del, and one donor site mutation of intron 13 of ITGB3 leading to 40 amino acids deletion, p.(Asp621_Glu660del), in the membrane proximal beta-tail domain of beta3. Lys-Arg integrin subunit beta 3 Homo sapiens