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Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families

✍ Scribed by A. Tanaka; J.E. Lai-Cheong; M.E.M. Café; B. Gontijo; P.R. Salomão; L. Pereira; J.A. McGrath


Book ID
108670359
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
738 KB
Volume
160
Category
Article
ISSN
0007-0963

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Two novel severe mutations in the pancre
✍ C. Le Maréchal; J. M. Chen; C. Le Gall; G. Plessis; J. Chipponi; N. A. Chuzhanov 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB

## Communicated by Richard G.H. Cotton Mutations in the serine protease inhibitor Kazal type 1 gene (SPINK1) encoding pancreatic secretory trypsin inhibitor (PSTI) have recently been found to be associated with chronic pancreatitis. Nevertheless, knowledge of severe mutations is particularly scarc