Article
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
The Journal of clinical investigation - 1 Dec 2001
Schenk B, Imbach T, Frank C G, Grubenmann C E, Raymond G V, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder A S, Jaeken J, Berger E G, Matthijs G, Hennet T, Aebi M
Abstract excerpt
Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I. Serum transferrin...
Topics
- Amino Acid Sequence
- Cells, Cultured
- Chromosome Mapping
- Congenital Disorders of Glycosylation
- Female
- Fibroblasts
- Glycosylation
- Humans
- Male
- Molecular Sequence Data