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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts . YAMAMOTO, TOSHIYUKI 1; NINOMIYA, HARUAKI 2; MATSUMOTO, MICHIKA 2; OHTA, YASUTOSHI 1; NANBA, EIJI 1; TSUTSUMI, YUKIE 3; YAMAKAWA, KAZUHIRO 3; MILLAT, GILLES 4; VANIER, MARIE T 4; PENTCHEV, PETER G 5; OHNO, KOUSAKU 2 [Letter] Journal of Medical Genetics. 37(9):707-711, September 1, 2000.
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