{
    "PMID": "10480349",
    "TI": "NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.",
    "JT": "Human genetics",
    "BTI": "",
    "DP": "1999",
    "AU": "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 M T, Morris J A, Pentchev P G, Ohno K"
}