Article
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
American journal of human genetics - 1 Mar 1993
Shipley J M, Klinkenberg M, Wu B M, Bachinsky D R, Grubb J H, Sly W S
Abstract excerpt
PCR of cDNA produced from patient fibroblasts allowed us to determine the paternal mutation in the first patient reported with beta-glucuronidase-deficiency mucopolysaccharidosis type VII (MPS VII). The G-->T transversion 1,881 bp downstream of the ATG translation initiation codon destroys an Mbo...
Topics
- Animals
- Base Sequence
- Cell Line
- Codon
- Exons
- Female
- Fibroblasts
- Glucuronidase
- Humans
- Hybrid Cells
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Protein Biosynthesis
- Pseudogenes