Article
Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?
Scandinavian journal of gastroenterology - 1 Mar 2006
Felderbauer P, Klein W, Bulut K, Ansorge N, Dekomien G, Werner I, Epplen J T, Schmitz F, Schmidt W E
Abstract excerpt
OBJECTIVE: In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR gene mutation L173P) and a mutation in the pancreatic secretory trypsin inhibitor gene (SPINK1) (N34S). While family members with an isolated calcium-sensing receptor gene (CASR) mutation remained healthy, a combination of the CASR and SPINK1 gene mutation caused chronic pancreatitis (CP). We thus...
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