TY  - GEN
AU  - Losonczy,Gergely
AU  - Rosenberg,Nurit
AU  - Kiss,Csongor
AU  - Kappelmayer,János
AU  - Vereb,György
AU  - Kerényi,Adrienne
AU  - Balogh,István
AU  - Muszbek,László
TI  - A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa
SN  - 0340-6245
PY  - 2005///0819
KW  - Animals
KW  - Blood Platelets
KW  - metabolism
KW  - Blotting, Western
KW  - Cell Line
KW  - Child
KW  - Cricetinae
KW  - Cytosine
KW  - chemistry
KW  - DNA
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Exons
KW  - Family Health
KW  - Female
KW  - Flow Cytometry
KW  - Gene Deletion
KW  - Homozygote
KW  - Humans
KW  - Immunoprecipitation
KW  - Integrin alphaVbeta3
KW  - biosynthesis
KW  - Integrin beta3
KW  - genetics
KW  - Male
KW  - Mutagenesis, Site-Directed
KW  - Mutation
KW  - Platelet Glycoprotein GPIIb-IIIa Complex
KW  - Platelet Membrane Glycoprotein IIb
KW  - Polymerase Chain Reaction
KW  - Protein Binding
KW  - Protein Structure, Tertiary
KW  - RNA, Messenger
KW  - Sequence Analysis, DNA
KW  - Thrombasthenia
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1160/TH04-12-0848
ER  -