TY - JOUR
T1 - Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis
AU - Joergensen, Maiken T
AU - Geisz, Andrea
AU - Brusgaard, Klaus
AU - Schaffalitzky de Muckadell, Ove B.
AU - Hegyi, Péter
AU - Gerdes, Anne-Marie Axø
AU - Sahin-Tóth, Miklós
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
U2 - http://dx.doi.org/10.1097/MPA.0b013e3182152fdf
DO - http://dx.doi.org/10.1097/MPA.0b013e3182152fdf
M3 - Journal article
VL - 40
SP - 540
EP - 546
JO - Pancreas
JF - Pancreas
SN - 0885-3177
IS - 4
ER -