Article
Molecular and phenotypic variation in patients with severe Hunter syndrome.
Human molecular genetics - 1 Mar 1997
Timms K M, Bondeson M L, Ansari-Lari M A, Lagerstedt K, Muzny D M, Dugan-Rocha S P, Nelson D L, Pettersson U, Gibbs R A
Abstract excerpt
Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomic...
Topics
- Chromosome Mapping
- Cloning, Molecular
- Electrophoresis, Agar Gel
- Gene Deletion
- Gene Expression
- Gene Rearrangement
- Humans
- Iduronate Sulfatase
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis II