Article
Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.
Prenatal diagnosis - 1 Aug 1998
Rafiqul Islam M, Gallegos Arreola M P, Wong P, Tomatsu S, Corona J S, Sly W S
Abstract excerpt
Recently we identified a P408S, P415L allele of beta-glucuronidase in several Mexican patients with mucopolysaccharidosis type VII (Sly syndrome) and presented evidence that both mutations are required to produce the MPS VII allele (Islam et al., 1996). In an attempt to determine whether either o...
Topics
- Alleles
- Amniotic Fluid
- Cells, Cultured
- DNA
- Gestational Age
- Glucuronidase
- Heterozygote
- Mexico
- Mucopolysaccharidosis VII
- Mutation
- Polymerase Chain Reaction
- Prenatal Diagnosis