Article
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.
The Journal of biological chemistry - 23 Sept 1994
Wu B M, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly W S
Abstract excerpt
Two beta-glucuronidase-deficient Mennonite siblings were found to be homozygous for a mutation in exon 3 of the beta-glucuronidase gene that produces a Leu-->Phe substitution (L176F). The siblings also have the previously described benign polymorphism, P649L. Although their cultured fibroblasts c...
Topics
- Alleles
- Base Sequence
- DNA Primers
- Gene Expression
- Glucuronidase
- Homozygote
- Hot Temperature
- Humans
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Oligonucleotide Probes
- Phenotype
- Protein Conformation
- RNA, Messenger
- Recombinant Proteins
- Transfection