Expression and molecular analysis of mutations in prolidase deficiency.

Article

Expression and molecular analysis of mutations in prolidase deficiency.

American journal of human genetics - 1 Nov 1996

Ledoux P, Scriver C R, Hechtman P

Abstract excerpt

Prolidase (E.C.3.4.13.9) cleaves iminodipeptides. Prolidase deficiency (PD; McKusick 170100) is an autosomal recessive disorder with highly variable penetrance. We have identified two novel alleles in the prolidase gene (PEPD) by direct sequencing of PCR-amplified cDNA from a PD individual asympt...

Topics

Alleles
Cell Line
Child
Dipeptidases
Humans
Mutagenesis, Site-Directed
Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA

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