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NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: pentchev pg. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349
Niemann-Pick disease type C: an update.
Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R. Vanier MT, et al. J Inherit Metab Dis. 1991;14(4):580-95. doi: 10.1007/BF01797928. J Inherit Metab Dis. 1991. PMID: 1749223 Review.
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 T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: pentchev pg. J Med Genet. 2000 Sep;37(9):707-12. doi: 10.1136/jmg.37.9.707. J Med Genet. 2000. PMID: 11182931 Free PMC article. No abstract available.
138 results