Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. [electronic resource]
Producer: 19930519Description: 2044-9 p. digitalISSN:- 0006-4971
- Adult
- Amino Acid Sequence
- Antibodies, Monoclonal
- Base Sequence
- Blood Platelets -- chemistry
- DNA -- chemistry
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Female
- Gene Deletion
- Homozygote
- Humans
- Immunosorbent Techniques
- Molecular Sequence Data
- Platelet Membrane Glycoproteins -- chemistry
- Polymerase Chain Reaction
- RNA Splicing -- genetics
- RNA, Messenger -- blood
- Thrombasthenia -- blood
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Publication Type: Case Reports; Journal Article
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