Article
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
Human mutation - 1 Jan 1992
Scott H S, Litjens T, 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 these partially de...
Topics
- Alleles
- Base Sequence
- Cells, Cultured
- DNA
- Exons
- Genes, Recessive
- Genetic Carrier Screening
- Homozygote
- Humans
- Iduronidase
- Leukocytes
- Molecular Sequence Data
- Mucopolysaccharidosis I
- Mutation
- Oligodeoxyribonucleotides
- Phenotype
- Polymerase Chain Reaction
- Skin