Article
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
American journal of human genetics - 1 Dec 1996
Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A
Abstract excerpt
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). We have identified IDS mutations in a total of 31 families/patients with MPS II, of which 20 are novel and unique and a further 1 is...
Topics
- Alternative Splicing
- Base Sequence
- Female
- Gene Rearrangement
- Genetic Linkage
- Genotype
- Heterozygote
- Humans
- Iduronate Sulfatase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Phenotype
- Point Mutation
- RNA, Messenger
- X Chromosome