TY  - GEN
AU  - Lozano,María Luisa
AU  - Cook,Aaron
AU  - Bastida,José María
AU  - Paul,David S
AU  - Iruin,Gemma
AU  - Cid,Ana Rosa
AU  - Adan-Pedroso,Rosa
AU  - Ramón González-Porras,José
AU  - Hernández-Rivas,Jesús María
AU  - Fletcher,Sarah J
AU  - Johnson,Ben
AU  - Morgan,Neil
AU  - Ferrer-Marin,Francisca
AU  - Vicente,Vicente
AU  - Sondek,John
AU  - Watson,Steve P
AU  - Bergmeier,Wolfgang
AU  - Rivera,José
TI  - Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction
SN  - 1528-0020
PY  - 2017///0804
KW  - Amino Acid Substitution
KW  - Blood Platelets
KW  - metabolism
KW  - Child
KW  - Enzyme Activation
KW  - genetics
KW  - Exons
KW  - Female
KW  - Guanine Nucleotide Exchange Factors
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Integrin beta3
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Platelet Activation
KW  - Platelet Membrane Glycoprotein IIb
KW  - Secretory Vesicles
KW  - Thrombasthenia
KW  - rap1 GTP-Binding Proteins
N1  - Publication Type: Case Reports; Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1182/blood-2015-11-683102
ER  -