Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
Year: 2010
Type: article
Source: Nature Genetics
DOI: 10.1038/ng.538
Authors: Andrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Utine, Tanju B Özkan, Jonas Denecke, Jurica Vukovic, Maja Di Rocco, Hanna Mandel, Hakan Cangul, Randolph P Matthews, Steve G Thomas, Joshua Z Rappoport, Irwin M Arias, Hartwig Wolburg, A S Knisely, Deirdre A Kelly, Ferenc Müller, Eamonn R Maher, Paul Gissen
Institutions: University of Birmingham, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Hacettepe University, Bursa Uludağ Üni̇versi̇tesi̇, Universitätsmedizin Rostock, University Hospital Centre Zagreb, Istituto Giannina Gaslini, Technion – Israel Institute of Technology, Meyer Children's Hospital, Children's Hospital of Philadelphia, University of Pennsylvania, University of Tübingen, King's College Hospital, Birmingham Children's Hospital, Birmingham Women's Hospital
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2000747270