Article
A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.
The Journal of clinical investigation - 1 Jul 1990
Tanoue A, Endo F, Kitano A, Matsuda I
Abstract excerpt
Prolidase deficiency is an autosomal recessive disorder characterized by mental retardation and various skin lesions. Cultured skin fibroblasts were obtained from two independent patients with abnormal prolidase. Using the polymerase chain reaction, we amplified the entire coding region of human prolidase mRNA derived from patients' fibroblasts. Nucleotide sequence analysis of amplified cDNA products revealed a G...
Topics
- Animals
- Base Sequence
- Blotting, Western
- DNA
- Dipeptidases
- Gene Expression
- Humans
- Mice
- Molecular Sequence Data
- Mutation
- Oligonucleotides