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Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP

✍ Scribed by Takashi Shiihara; Yukio Sawaishi; Michito Adachi; Mitsuhiro Kato; Kiyoshi Hayasaka


Book ID
119301491
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
487 KB
Volume
225
Category
Article
ISSN
0022-510X

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Hereditary pancreatitis caused by mutati
✍ Γ‰va Kereszturi; RichΓ‘rd Szmola; ZoltΓ‘n Kukor; Peter Simon; Frank Ulrich Weiss; M πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 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