Article
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
American journal of human genetics - 1 Nov 1993
Scott H S, Litjens T, Nelson P V, Thompson P R, Brooks D A, Hopwood J J, Morris C P
Abstract excerpt
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish bet...
Topics
- Animals
- Base Sequence
- CHO Cells
- Cell Line
- Cricetinae
- DNA
- DNA Mutational Analysis
- Female
- Humans
- Iduronidase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis I
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Syndrome