Article
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Human molecular genetics - 1 Aug 1992
Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood J J, Gal A
Abstract excerpt
Iduronate-2-sulfatase (IDS) cDNA from fibroblasts of nine patients with Hunter syndrome (mucopolysaccharidosis type II) was screened for mutations using single strand conformation polymorphism analysis. Direct sequencing revealed a number of different mutations including missense or nonsense point mutations, deletions of one, two, or 60 base pairs, and a 22 base pair-insertion. Mutations of these types probably...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Genotype
- Humans
- Iduronate Sulfatase