Article
Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.
Blood - 15 Jun 1992
Kato A, Yamamoto K, Miyazaki S, Jung S M, Moroi M, Aoki N
Abstract excerpt
The genetic basis for Glanzmann's thrombasthenia (GT) was elucidated on a compound heterozygote with glycoprotein (GP)IIb gene: an opal mutation at the end of exon 17 (CGA----TGA) results in only a trace amount of GPIIb mRNA, and a splicing mutation at the acceptor site of exon 26 (CAG----GAG) ca...
Topics
- Base Sequence
- Blood Platelets
- Child
- DNA
- DNA Restriction Enzymes
- Endoplasmic Reticulum
- Exons
- Gene Library
- Heterozygote
- Humans
- Male
- Mutation
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger
- Ribonucleases
- Thrombasthenia