Article
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Human mutation - 1 Jan 1995
Scott H S, Bunge S, Gal A, Clarke L A, Morris C P, Hopwood J J
Abstract excerpt
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the alpha-L-iduronidase (IDUA) gene. These mutations lead to a deficiency of the glycosidase alpha-L-iduronidase (IDUA), which is required for the degradation of heparan sulphate and dermatan sulphate an...
Topics
- Codon, Nonsense
- DNA Mutational Analysis
- Genotype
- Humans
- Iduronidase
- Infant
- Infant, Newborn
- Mucopolysaccharidosis I
- Mutation
- Phenotype
- Polymorphism, Genetic
- Sequence Deletion