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Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

OBJECTIVES: 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 three amino acids within the activation peptide...

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Detalhes bibliográficos
Main Authors: Joergensen, Maiken T., Geisz, Andrea, Brusgaard, Klaus, de Muckadell, Ove B. Schaffalitzky, Hegyi, Péter, Gerdes, Anne-Marie, Sahin-Tóth, Miklós
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3088488/
https://ncbi.nlm.nih.gov/pubmed/21499207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPA.0b013e3182152fdf
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