Article
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.
Molecular genetics and metabolism - 1 Jul 2000
Westphal V, Schottstädt C, Marquardt T, Freeze H H
Abstract excerpt
Congenital disorder of glycosylation Ic is caused by mutations in the hALG6 gene that encodes an alpha-1,3 glucosyltransferase. This enzyme is required for the addition of the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Here we describe the biochemical and molecular analysis of a patient with three mutations in the hALG6 gene. The maternal allele has an intronic...
Topics
- Alleles
- Child
- Congenital Disorders of Glycosylation
- DNA Mutational Analysis
- DNA Primers
- Exons
- Fibroblasts
- Glucosyltransferases
- Glycosylation
- Humans
- Male
- Membrane Proteins
- Mutation
- Polymorphism, Genetic
- RNA, Messenger
- Reverse Transcriptase Polymerase Chain Reaction
- Saccharomyces cerevisiae