Article
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.
Human genetics - 1 Dec 1998
Vervoort R, Gitzelmann R, Lissens W, Liebaers I
Abstract excerpt
We have previously sequenced the complete coding region and the promoter region of the beta-glucuronidase gene of a patient with mild mucopolysaccharidosis type VII (MPS VII) and identified a nonsense mutation in the gene inherited from her mother. The mutation inherited from her father was not f...
Topics
- Alu Elements
- Base Sequence
- Exons
- Fathers
- Genotype
- Heterozygote
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- RNA Splicing
- Sequence Analysis, DNA
- beta-Glucosidase