Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
Xiaofeng Sun, David L. Marks, Walter D. Park, Christine L. Wheatley, Vishwajeet Puri, John F. O’Brien, Daniel L. Kraft, Patrick A. Lundquist, Marc C. Patterson, Richard E. Pagano, Karen Snow
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