Article
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
Biochemical and biophysical research communications - 16 Mar 1992
Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T
Abstract excerpt
Hunter disease, an X-linked recessive lysosomal storage disorder, is caused by a deficiency in iduronate sulfatase activity. Sequence analysis of mRNA of fibroblasts of an intermediate phenotype patient showed a single C1327 to T nucleotide transition. This mutation resulted in a substitution of termination codon for normal arginine at position 443 of the peptide sequence. Expression studies with this abnormal...
Topics
- Base Sequence
- Child
- Fibroblasts
- Gene Expression
- Humans
- Iduronate Sulfatase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II
- Mutation
- Pedigree