Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

Walter D. Park, John F. O'Brien, Patrick A. Lundquist, Daniel L. Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson, Karen Snow

Research output: Contribution to journal › Article › peer-review

129 Scopus citations

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Medicine & Life Sciences