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Article

A new polymorphism for the RI22H mutation in hereditary pancreatitis.

Gut - 1 Feb 2001

Howes N, Greenhalf W, Rutherford S, O'Donnell M, Mountford R, Ellis I, Whitcomb D, Imrie C, Drumm B, Neoptolemos J P

Abstract excerpt

BACKGROUND AND AIMS: Hereditary pancreatitis (HP) is a rare form of recurrent acute and chronic pancreatitis. Mutations in the cationic trypsinogen (protease serine 1, PRSS1) gene have been identified as causing HP. The R122H (previously known as R117H) mutation is the commonest and can be detected by a single and rapid polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) based technique...

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Source

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Identifiers

PMID: 11156648
DOI: 10.1136/gut.48.2.247
PMCID: PMC1728213

Genes

PRSS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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