Article
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Human mutation - 1 Jan 1993
Hopwood J J, Bunge S, Morris C P, Wilson P J, Steglich C, Beck M, Schwinger E, Gal A
Abstract excerpt
A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-sit...
Topics
- Gene Deletion
- Humans
- Iduronate Sulfatase
- Mucopolysaccharidosis II
- Mutation
- Point Mutation