Article
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.
Proceedings of the National Academy of Sciences of the United States of America - 1 Oct 1990
Fukuda M N, Masri K A, Dell A, Luzzatto L, Moremen K W
Abstract excerpt
Congenital dyserythropoietic anemia type II, or hereditary erythroblastic multinuclearity with a positive acidified-serum-lysis test (HEMPAS), is a genetic anemia in humans inherited by an autosomally recessive mode. The enzyme defect in most HEMPAS patients has previously been proposed as a lowered activity of N-acetylglucosaminyltransferase II, resulting in a lack of polylactosamine on proteins and leading to...
Topics
- Anemia, Dyserythropoietic, Congenital
- Carbohydrate Conformation
- Carbohydrate Sequence
- Cell Membrane
- DNA Probes
- Genes
- Glycopeptides
- Humans
- Kinetics
- Lymphocytes