Article
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Human molecular genetics - 1 Apr 1995
Yamada S, Tomatsu S, Sly W S, Islam R, Wenger D A, Fukuda S, Sukegawa K, Orii T
Abstract excerpt
Mucopolysaccharidosis type VII (MPS VII), or Sly syndrome, is a lysosomal storage disorder caused by a deficiency in the enzyme beta-glucuronidase. Various clinical phenotypes of this autosomal recessively inherited disease have been described. Recent isolation and characterization of human beta-...
Topics
- Base Sequence
- DNA Primers
- DNA, Complementary
- Exons
- Female
- Glucuronidase
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Mutation
- RNA Splicing