Associated Papers
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
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