@article{1de2ff87cf324f84ba904bb96ffeef0c,
title = "Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis",
abstract = "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 genetic alteration on the function of human cationic trypsinogen.",
keywords = "Amino Acid Sequence, Base Sequence, Blotting, Western, Cathepsin B, Denmark, Enzyme Activation, Family Health, Female, HEK293 Cells, Humans, Male, Mutation, Pancreatitis, Chronic, Pedigree, Repetitive Sequences, Amino Acid, Repetitive Sequences, Nucleic Acid, Trypsin",
author = "Joergensen, {Maiken T} and Andrea Geisz and Klaus Brusgaard and {Schaffalitzky de Muckadell}, {Ove B.} and P{\'e}ter Hegyi and Gerdes, {Anne-Marie Ax{\o}} and Mikl{\'o}s Sahin-T{\'o}th",
year = "2011",
doi = "10.1097/MPA.0b013e3182152fdf",
language = "English",
volume = "40",
pages = "540--6",
journal = "Pancreas",
issn = "0885-3177",
publisher = "Lippincott Williams and Wilkins",
number = "4",
}