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Hereditary chronic pancreatitis (HPC): Heterogeneity of mutations of the gene of cationic trysinogen

✍ Scribed by Férec, C; Raguenes, O; Mercier, B; Bignon, JD; Georgelin, T; Soulard, F; Le Bodic, L

Book ID
122414537
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
181 KB
Volume
114
Category
Article
ISSN
0016-5085

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Mutations of the cationic trypsinogen in
Mutations of the cationic trypsinogen in hereditary pancreatitis
✍ Niels Teich; Joachim Mössner; Volker Keim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB

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 show