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Article

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

Journal of human genetics - 1 Jan 2000

Kikuchi S, Tanoue A, Endo F, Wakasugi S, Matsuo N, Tsujimoto G

Abstract excerpt

A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.

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Source

Identifiers

PMID: 10721675
DOI: 10.1007/s100380050023

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.

Related research

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A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.PMID 10721675Read ↗

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

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