Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease

Jonathan P. Desnick, Jungmin Kim, Xingxuan He, Melissa P. Wasserstein, Calogera M. Simonaro, Edward H. Schuchman

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

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Medicine & Life Sciences