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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: nanba e. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S. Chikumi H, et al. Among authors: nanba e. J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027. J Hum Genet. 2000. PMID: 10721679
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: nanba e. 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.
242 results