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- W2093587531 abstract "Hereditary pancreatitis (OMIM 167800) is thought to be associated with a mutation of the exon 3 of cationic trypsinogen (Nature Genet (1996): 14:141–145). This paper reports sequence data of two independent families suffering from this disease. PCR amplificates from leukocyte or buccal swab DNA showed no mutation of exon 3 of cationic trypsinogen. Instead, in exon 2, an A-to-T tranversion was found that led to the substitution of Asn by Ile in the sixth amino acid of the active trypsin. In exons 4 and 5, silent mutations were found. In the other expressed trypsinogens, several homozygous alterations not associated to hereditary pancreatitis were identified. As a model of pathogenesis, we hypothesize that mutation of trypsinogen in exon 2 could lead to premature cleavage of the activation peptide of trypsinogen or to altered intracellular transport. Hum Mutat 12:39–43, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W2093587531 date "1998-01-01" @default.
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- W2093587531 title "Mutations of the cationic trypsinogen in hereditary pancreatitis" @default.
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- W2093587531 doi "https://doi.org/10.1002/(sici)1098-1004(1998)12:1<39::aid-humu6>3.0.co;2-p" @default.
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