Article
Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
Blood - 1 Feb 1999
González-Manchón C, Fernández-Pinel M, Arias-Salgado E G, Ferrer M, Alvarez M V, García-Muñoz S, Ayuso M S, Parrilla R
Abstract excerpt
This work was aimed at elucidating the molecular genetic lesion(s) responsible for the thrombasthenic phenotype of a patient whose low platelet content of glycoprotein (GP) IIb-IIIa indicated that it was a case of type II Glanzmann's thrombasthenia (GT). The parents did not admit consanguinity an...
Topics
- Alleles
- Amino Acid Substitution
- Animals
- Biological Transport
- CHO Cells
- Cell Membrane
- Child
- Cricetinae
- Cricetulus
- Cystine
- DNA Mutational Analysis
- Exons
- Female
- Heterozygote