Article
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Human molecular genetics - 1 Nov 1993
Bunge S, Steglich C, Zuther C, Beck M, Morris C P, Schwinger E, Schinzel A, Hopwood J J, Gal A
Abstract excerpt
Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations....
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA Primers
- Female
- Genotype
- Humans
- Iduronate Sulfatase
- Introns
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Sequence Deletion