Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking
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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking
Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 Jul 26;3(14). pii: 121596. doi: 10.1172/jci.insight.121596. [Epub ahead of print]
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