Article
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Human mutation - 1 Jan 1994
Clarke L A, Nelson P V, Warrington C L, Morris C P, Hopwood J J, Scott H S
Abstract excerpt
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive genetic disorder caused by deficiency of the lysosomal glycosidase alpha-L-iduronidase. Patients with this disorder present with varied clinical phenotypes ranging from early severe onset of disease and death in early childhood to mil...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- DNA Mutational Analysis
- DNA Primers
- Fibroblasts
- Genotype
- Humans
- Iduronidase
- Molecular Sequence Data
- Mucopolysaccharidosis I
- North America
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic