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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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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2011
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| Teme: | |
| Online dostop: | 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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