Article
Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.
Blood - 15 Sept 1991
Telen M J, Le Van Kim C, Chung A, Cartron J P, Colin Y
Abstract excerpt
Glycophorin C (GPC) and glycophorin D (GPD) are highly glycosylated integral membrane proteins of human erythrocytes encoded by the same gene and associated with expression of Gerbich blood group system antigens. GPC/D deficiency (the Leach phenotype) is a rare condition usually found after ident...
Topics
- Amino Acid Sequence
- Blotting, Southern
- Chromosome Deletion
- Elliptocytosis, Hereditary
- Exons
- Glycophorins
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA, Messenger
