Article
A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations.
BMC gastroenterology - 29 Nov 2003
Felderbauer Peter, Hoffmann Peter, Einwächter Henrik, Bulut Kerem, Ansorge Nikolaus, Schmitz Frank, Schmidt Wolfgang E
Abstract excerpt
BACKGROUND: The role of mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene in chronic pancreatitis is still a matter of debate. Active SPINK1 is thought to antagonize activated trypsin. Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis. However, the inheritance pattern is still unknown. Some cases with N34S heterozygosity...
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