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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Pottie, Lore; Van Gool, Wouter; Vanhooydonck, Michiel; Hanisch, Franz-Georg; Goeminne, Geert; Rajkovic, Andreja; Coucke, Paul; Sips, Patrick; Callewaert, Bert.
  • Pottie L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
  • Van Gool W; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Vanhooydonck M; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
  • Hanisch FG; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Goeminne G; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
  • Rajkovic A; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Coucke P; Institute of Biochemistry II, Medical Faculty, University of Cologne, Cologne, Germany.
  • Sips P; VIB Metabolomics Core Ghent, Ghent, Belgium.
  • Callewaert B; Department of Plant Biotechnology and Bioinformatics, Ghent University, Ghent, Belgium.
PLoS Genet ; 17(6): e1009603, 2021 06.
Article en En | MEDLINE | ID: mdl-34143769
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Piel / Anomalías Múltiples / Cutis Laxo / ATPasas de Translocación de Protón Vacuolares / Proteínas de Pez Cebra / Células Epiteliales Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Piel / Anomalías Múltiples / Cutis Laxo / ATPasas de Translocación de Protón Vacuolares / Proteínas de Pez Cebra / Células Epiteliales Idioma: En Año: 2021 Tipo del documento: Article