Article
Identification of a nonsense mutation at amino acid 584-arginine of platelet glycoprotein IIb in patients with type I Glanzmann thrombasthenia.
British journal of haematology - 1 Mar 1993
Gu J M, Xu W F, Wang X D, Wu Q Y, Chi C W, Ruan C G
Abstract excerpt
Using Southern blot, the restriction digests of genomic DNAs in 11 patients with Glanzmann thrombasthenia from 10 unrelated kindreds were probed with a full-length GPIIb cDNA. An additional 2.3 kb Taq I fragment and two 1.65 kb and 0.65 kb fragments with reduced band intensity were found in the g...
Topics
- Amino Acid Sequence
- Arginine
- Base Sequence
- Blotting, Southern
- Blotting, Western
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- Thrombasthenia