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Clinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene

✍ Scribed by Volker Keim; Nadine Bauer; Niels Teich; Peter Simon; Markus M Lerch; Joachim Mössner


Book ID
117013610
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
70 KB
Volume
111
Category
Article
ISSN
1555-7162

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Mutations of the cationic trypsinogen in
✍ 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