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.

Losonczy, Gergely

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. [electronic resource] - Thrombosis and haemostasis May 2005 - 904-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0340-6245

10.1160/TH04-12-0848 doi


Animals
Blood Platelets--metabolism
Blotting, Western
Cell Line
Child
Cricetinae
Cytosine--chemistry
DNA--metabolism
Electrophoresis, Polyacrylamide Gel
Exons
Family Health
Female
Flow Cytometry
Gene Deletion
Homozygote
Humans
Immunoprecipitation
Integrin alphaVbeta3--biosynthesis
Integrin beta3--genetics
Male
Mutagenesis, Site-Directed
Mutation
Platelet Glycoprotein GPIIb-IIIa Complex--genetics
Platelet Membrane Glycoprotein IIb--genetics
Polymerase Chain Reaction
Protein Binding
Protein Structure, Tertiary
RNA, Messenger--metabolism
Sequence Analysis, DNA
Thrombasthenia--genetics
Transfection