𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Nomenclature of trypsinogen mutations in hereditary pancreatitis

✍ Scribed by Niels Teich; Albrecht Hoffmeister; Volker Keim

Book ID
101263109
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
97 KB
Volume
15
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Mutations of human cationic trypsinogen
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis
✍ Niels Teich; Jonas Rosendahl; Miklós Tóth; Joachim Mössner; Miklós Sahin-Tóth 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the

Hereditary pancreatitis caused by mutati
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: A novel disease mechanism
✍ Éva Kereszturi; Richárd Szmola; Zoltán Kukor; Peter Simon; Frank Ulrich Weiss; M 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 269 KB

We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. This mutation leads to an unpaired Cys residue with the potential to interfe