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]
Producer: 20050819Description: 904-9 p. digitalISSN:- 0340-6245
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.