Article
[Significance of trypsinogen gene mutations in the etiology of hereditary pancreatitis].
Orvosi hetilap - 25 Mar 2001
Sahin-Tóth M, Tóth M
Abstract excerpt
Hereditary, chronic pancreatitis is an autosomal dominant genetic disorder, frequently associated with two point mutations in the cationic trypsinogen gene. The mutations result in characteristic changes in the amino-acid sequence of trypsinogen: an arginine residue at position 117 is changed to histidine (Arg117-->His) or an asparagine residue at position 21 is replaced by isoleucine (Asn21-->Ile). Current...
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