PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype

We report here for the first time a family from India that is positive for R122H mutation in thePRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic.
Source: Indian Journal of Gastroenterology - Category: Gastroenterology Source Type: research