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Article

A novel exon duplication of the cystic fibrosis transmembrane conductance regulator in a patient presenting with adult-onset recurrent pancreatitis.

Pancreas - 1 Jul 2011

Kopp Benjamin T, Pastore Matthew T, Sturm Amy C, Holtzlander Melissa J, Westman Judith A

Abstract excerpt

Pancreatitis is a rare occurrence in patients with cystic fibrosis (CF) affecting 1.2% of all patients, but it can be the first presenting sign in approximately 15% of adults with pancreatic sufficiency and a milder CF phenotype. We report a case of a woman with recurrent pancreatitis who has one cystic fibrosis-causing mutation (G551D) and the first known description of a pathologic duplication of exon 19 of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cystic Fibrosis Transmembrane Conductance Regulator

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Share to Segmental Duplications, Genomic

Share to Trypsin Inhibitor, Kazal Pancreatic

Source

Identifiers

PMID: 21673536
DOI: 10.1097/MPA.0b013e3182156e47

Genes

CFTR
SPINK1

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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