Article
Four novel PEPD alleles causing prolidase deficiency.
American journal of human genetics - 1 Jun 1994
Ledoux P, Scriver C, Hechtman P
Abstract excerpt
Mutations at the PEPD locus cause prolidase deficiency (McKusick 170100), a rare autosomal recessive disorder characterized by iminodipeptiduria, skin ulcers, mental retardation, and recurrent infections. Four PEPD mutations from five severely affected individuals were characterized by analysis o...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- DNA Mutational Analysis
- DNA, Complementary
- Dipeptidases
- Exons
- Female
- Fibroblasts
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction