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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 of reverse-transcribed, PCR-amplified (RT-PCR) cDNA. We used SSCP analysis on four overlapping cDNA fragments covering...

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Identifiers

PMID: 8198124
PMCID: PMC1918181

Genes

PEPD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Four novel PEPD alleles causing prolidase deficiency.PMID 8198124Read ↗

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Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.Semantic proximity Read ↗

Expression and molecular analysis of mutations in prolidase deficiency.Semantic proximity Read ↗

Molecular basis of prolidase (peptidase D) deficiency.Semantic proximity Read ↗

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.Semantic proximity Read ↗

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.Semantic proximity Read ↗

Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.Semantic proximity Read ↗

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.Semantic proximity Read ↗

Harnessing natural diversity to identify key amino acid residues in prolidaseSemantic proximity Read ↗

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.Semantic proximity Read ↗

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