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Pubmed ID :11182931
Publication Date : //

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.



Authors : Yamamoto T , Ninomiya H , Matsumoto M , Ohta Y , Nanba E , Tsutsumi Y , Yamakawa K , Millat G , Vanier M T , Pentchev P G , Ohno K ,

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