Your browser doesn't support javascript.
loading
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Holt-Danborg, Lasse; Vodopiutz, Julia; Nonboe, Annika W; De Laffolie, Jan; Skovbjerg, Signe; Wolters, Victorien M; Müller, Thomas; Hetzer, Benjamin; Querfurt, Alexander; Zimmer, Klaus-Peter; Jensen, Jan K; Entenmann, Andreas; Heinz-Erian, Peter; Vogel, Lotte K; Janecke, Andreas R.
Afiliação
  • Holt-Danborg L; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Denmark.
  • Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna.
  • Nonboe AW; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Denmark.
  • De Laffolie J; Abteilung Allgemeine Pädiatrie und Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen, Germany.
  • Skovbjerg S; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Denmark.
  • Wolters VM; Department of Pediatric Gastroenterology, WKZ/ UMC Utrecht, Utrecht, The Netherlands.
  • Müller T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Hetzer B; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Querfurt A; Gesundheit Nord gGmbH, Klinikverbund Bremen, Klinik für Kinder und Jugendmedizin, Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte, Bremen, Germany.
  • Zimmer KP; Abteilung Allgemeine Pädiatrie und Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen, Germany.
  • Jensen JK; Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark.
  • Entenmann A; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Heinz-Erian P; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Vogel LK; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Denmark.
  • Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Hum Mol Genet ; 28(5): 828-841, 2019 03 01.
Article em En | MEDLINE | ID: mdl-30445423
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Glicoproteínas de Membrana / Serina Endopeptidases / Regulação da Expressão Gênica / Mutação de Sentido Incorreto / Diarreia / Erros Inatos do Metabolismo Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Glicoproteínas de Membrana / Serina Endopeptidases / Regulação da Expressão Gênica / Mutação de Sentido Incorreto / Diarreia / Erros Inatos do Metabolismo Idioma: En Ano de publicação: 2019 Tipo de documento: Article