Article
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Human genetics - 1 Dec 1998
Karsten S, Voskoboeva E, Tishkanina S, Pettersson U, Krasnopolskaja X, Bondeson M L
Abstract excerpt
We present a mutational analysis of the iduronate-2-sulfatase (IDS) gene of 36 Russian patients with Hunter syndrome. Among 29 mutant alleles, there were 19 missense mutations, 1 nonsense mutation, 6 mutations affecting splice sites, and 3 major structural alterations resulting in deletions. Of t...
Topics
- Blotting, Southern
- Genotype
- Humans
- Iduronate Sulfatase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Mutation
- Mutation, Missense
- Phenotype
- Polymorphism, Single-Stranded Conformational
- RNA Splicing
- Russia
- Sequence Analysis, DNA
- Sequence Deletion