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
JCI Insight. 2018 Jul 26;3(14). pii: 121596. doi: 10.1172/jci.insight.121596. eCollection 2018 Jul 26.
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