Article
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Human molecular genetics - 1 Sept 1997
Weber B, Guo X H, Wraith J E, Cooper A, Kleijer W J, Bunge S, Hopwood J J
Abstract excerpt
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of sulfamidase. The resulting lysosomal storage of heparan sulfate may lead to severe neurodegeneration preceded by progressive dementia, often combine...
Topics
- DNA Primers
- Gene Frequency
- Genotype
- Humans
- Hydrolases
- Molecular Sequence Data
- Mucopolysaccharidosis III
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational