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Article

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.

Pancreas - 1 May 2011

Joergensen Maiken T, Geisz Andrea, Brusgaard Klaus, Schaffalitzky de Muckadell Ove B, Hegyi Péter, Gerdes Anne-Marie, Sahin-Tóth Miklós

Abstract excerpt

OBJECTIVES: In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic trypsinogen (p.K23_I24insIDK). The aim of the present study was to characterize the effect of this unique...

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Source

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Identifiers

PMID: 21499207
DOI: 10.1097/MPA.0b013e3182152fdf
PMCID: PMC3088488

Genes

PRSS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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