Article
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
Human genetics - 1 Apr 1997
Vervoort R, Buist N R, Kleijer W J, Wevers R, Fryns J P, Liebaers I, Lissens W
Abstract excerpt
We used polymerase chain reaction (PCR)/single-strand conformation polymorphism analysis and direct sequencing of the coding region of the beta-glucuronidase cDNA and gene to detect mutations causing beta-glucuronidase enzyme deficiency in five MPS VII patients. Four patients presented with hydro...
Topics
- Base Sequence
- Binding Sites
- DNA
- Exons
- Fibroblasts
- Genetic Heterogeneity
- Glucuronidase
- Humans
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Mutation
- Poly A