Article
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Human mutation - 1 Jan 1992
Scott H S, Litjens T, Nelson P V, 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 glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MPS-I store forms of these partially degraded glycosaminoglycans in their lysosomes. MPS-I patients present with a wide range of clinical phenotypes,...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Bone Marrow Transplantation
- DNA
- DNA Mutational Analysis
- DNA Probes
- Genotype
- Haplotypes
- Humans
- Iduronidase
- Linkage Disequilibrium