Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
KDELR2 与 HSP47 的相互作用是 KDELR2 双等位基因变异导致成骨不全的关键决定因素
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.09.009
van Dijk, Fleur S; Semler, Oliver; Etich, Julia; Köhler, Anna; Jimenez-Estrada, Juan A; Bravenboer, Nathalie; Claeys, Lauria; Riesebos, Elise; Gegic, Sejla; Piersma, Sander R; Jimenez, Connie R; Waisfisz, Quinten; Flores, Carmen-Lisset; Nevado, Julian; Harsevoort, Arjan J; Janus, Guus J M; Franken, Anton A M; van der Sar, Astrid M; Meijers-Heijboer, Hanne; Heath, Karen E; Lapunzina, Pablo; Nikkels, Peter G J; Santen, Gijs W E; Nüchel, Julian; Plomann, Markus; Wagener, Raimund; Rehberg, Mirko; Hoyer-Kuhn, Heike; Eekhoff, Elisabeth M W; Pals, Gerard; Mörgelin, Matthias; Newstead, Simon; Wilson, Brian T; Ruiz-Perez, Victor L; Maugeri, Alessandra; Netzer, Christian; Zaucke, Frank; Micha, Dimitra