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]
Producer: 19981029Description: 42-8 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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