Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
---|---|
Tidsskrift | Pancreas |
Vol/bind | 40 |
Udgave nummer | 4 |
Sider (fra-til) | 540-6 |
Antal sider | 7 |
ISSN | 0885-3177 |
DOI | |
Status | Udgivet - 2011 |
ID: 40153654