Article
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Human mutation - 1 Sept 2004
Yogalingam G, Guo X-H, Muller V J, Brooks D A, Clements P R, Kakkis E D, Hopwood J J
Abstract excerpt
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase (IDUA). Mutations in the gene are responsible for the enzyme deficiency, which leads to the intralysosomal storage of the partially degraded glycosaminoglycans dermatan sulfate and heparan sulfate. Molecular characterization of MPS I patients has resulted in the identification of...
Topics
- Amino Acid Substitution
- Animals
- CHO Cells
- Cell Line
- Codon
- Cohort Studies
- Cricetinae
- Cricetulus
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Fibroblasts
- Humans
- Iduronidase