Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking

Yuji Kondo, Jianxin Fu, Hua Wang, Christopher Hoover, J. Michael McDaniel, Richard Steet, Debabrata Patra, Jianhua Song, Laura Pollard, Sara Cathey, Tadayuki Yago, Graham Wiley, Susan Macwana, Joel Guthridge, Samuel McGee, Shibo Li, Courtney Griffin, Koichi Furukawa, Judith A. James, Changgeng RuanRodger P. McEver, Klaas J. Wierenga, Patrick M. Gaffney, Lijun Xia

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Medicine & Life Sciences