Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA.

Simsek, S

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] - Blood Apr 1993 - 2044-9 p. digital

Publication Type: Case Reports; Journal Article

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