Article
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.
JOP : Journal of the pancreas - 18 May 2009
de las Heras-Castaño Gonzalo, Castro-Senosiaín Beatriz, Fontalba Ana, López-Hoyos Marcos, Sánchez-Juán Pascual
Abstract excerpt
CONTEXT: Hereditary pancreatitis is an autosomal dominant disease which is caused by mutations in the PRSS1 gene. OBJECTIVE: The aim of our study was to describe the penetrance and phenotype-genotype correlations of the c.346C>T (p.R122C) mutation. DESIGN: Case series descriptive study. PATIENTS: Forty-one members of six families from whom DNA samples were analyzed. MAIN OUTCOME MEASURES: In subjects with R122C...
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