Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.

Abstract excerpt

CONTEXT: Hereditary pancreatitis is the early onset form of chronic pancreatitis that is carried in an autosomal dominant pattern with variable penetrance. While 80% of hereditary pancreatitis has been shown to be due to a single mutation in the trypsinogen gene PRSS1, a number of hereditary pancreatitis families have no identified genetic cause for illness; thus no reliable screening options or clear therapy....

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