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Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance.
Németh, Balázs Csaba; Orekhova, Anna; Zhang, Wenying; Nortman, Shannon A; Thompson, Tyler; Hegyi, Péter; Abu-El-Haija, Maisam.
  • Németh BC; First Department of Medicine, University of Szeged, Szeged, Hungary.
  • Orekhova A; Momentum Gastroenterology Multidisciplinary Research Group, Hungarian Academy of Sciences and University of Szeged, Szeged, Hungary.
  • Zhang W; Department of Molecular and Cell Biology, Henry M Goldman School of Dental Medicine, Boston University, Boston, Massachusetts, USA.
  • Nortman SA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
  • Thompson T; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Hegyi P; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Abu-El-Haija M; Division of Pediatric Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Gut ; 69(4): 790-792, 2020 04.
Article en En | MEDLINE | ID: mdl-31005883

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pancreatitis Crónica Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pancreatitis Crónica Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article