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Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S van Dijk, Oliver Semler, Julia Etich, Anna M. Köhler, Juan A. Jimenez‐Estrada, Nathalie Bravenboer, Lauria Claeys, Elise Riesebos, Sejla Gegic, Sander R. Piersma, Connie R. Jiménez, Quinten Waisfisz, Carmen‐Lisset Flores, Julián Nevado, Arjan J. Harsevoort, Guus Janus, Anton Franken, Astrid M. van der Sar, Hanne Meijers‐Heijboer, Karen E. Heath, Pablo Lapunzina, Peter G. J. Nikkels, Gijs W.E. Santen, Julian Nüchel, Markus Plomann, Raimund Wagener, Mirko Rehberg, Heike Hoyer‐Kuhn, Elisabeth M. W. Eekhoff, Gerard Pals, Matthias Mörgelin, Simon Newstead, Brian T. Wilson, Víctor L. Ruiz‐Pérez, Alessandra Maugeri, Christian Netzer, Frank Zaucke, Dimitra Micha

2020The American Journal of Human Genetics64 citationsDOIOpen Access PDF

Topics & Concepts

Osteogenesis imperfectaAlleleGeneticsKey (lock)BiologyMedicineAnatomyGeneEcologyConnective tissue disorders researchBone and Dental Protein StudiesProtease and Inhibitor Mechanisms
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