Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K, Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet68(6):1361-72 2001
PubMed ID: 11349231

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Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03123Female9 YR451probandNIEMANN-PICK DISEASE, TYPE C1; NPC1