Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. [electronic resource]
Producer: 20170804Description: 1282-9 p. digitalISSN:- 1528-0020
- Amino Acid Substitution
- Blood Platelets -- metabolism
- Child
- Enzyme Activation -- genetics
- Exons
- Female
- Guanine Nucleotide Exchange Factors -- genetics
- High-Throughput Nucleotide Sequencing
- Humans
- Integrin beta3 -- genetics
- Male
- Middle Aged
- Mutation, Missense
- Platelet Activation -- genetics
- Platelet Membrane Glycoprotein IIb -- genetics
- Secretory Vesicles -- genetics
- Thrombasthenia -- genetics
- rap1 GTP-Binding Proteins -- metabolism
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Publication Type: Case Reports; Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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