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Article

DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency.

Journal of human genetics - 1 Jan 2003

Cao Henian, Hegele Robert A

Abstract excerpt

Carboxypeptidase N (EC 3.4.17.3) regulates the activity of peptides such as kinins and anaphylatoxins. Although deficiency of carboxypeptidase N (MIM 212070) produces a severe allergic syndrome, no human mutations have ever been described. Therefore, using archival genomic DNA from a subject with...

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Identifiers

PMID: 12560874
DOI: 10.1007/s100380300003

Genes

CPN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12560874-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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