A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia. [electronic resource]
- Thrombosis and haemostasis Jul 1998
- 42-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0340-6245
Amino Acid Sequence Amino Acid Substitution Antigens, CD--genetics Child Humans Integrin beta3 Integrins--genetics Leucine Male Molecular Sequence Data Platelet Glycoprotein GPIIb-IIIa Complex--genetics Platelet Membrane Glycoproteins--genetics Point Mutation Protein Structure, Tertiary Sequence Homology, Amino Acid Serine Thrombasthenia--genetics