Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis

Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene, especially R122H or N29I. We sequenced the PRSS1 gene in the proband of families without these common mutations. Novel R122C and N29T mutations were detected in independent families that segregated...

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Bibliografiske detaljer
Main Authors: Pfützer, R, Myers, E, Applebaum-Shapiro, S, Finch, R, Ellis, I, Neoptolemos, J, Kant, J A, Whitcomb, D C
Format: Artigo
Sprog:Inglês
Udgivet: Copyright 2002 by Gut 2002
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1773118/
https://ncbi.nlm.nih.gov/pubmed/11788572
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