Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with a accumulation of hydroxyl fatty acid-containing ceramide
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with a accumulation of hydroxyl fatty acid-containing ceramide
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鞘脂激活蛋白基因saposin D结构域突变导致泌尿系统缺陷和小脑浦肯野细胞变性，并伴有羟基脂肪酸神经酰胺的积累
DOI：
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
Junko Matsuda
中科院分区：
文献类型：
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作者：
Mishima S;Miyata T;Suzuki KM;Araki Y;Akao Y;Isohama Y;Tadatoshi Sato;Hironori Yamamoto;Eiji Takeda;Eiji Takeda;Kunitaka Nashiki;Yoki Kuwano;Eiji Takeda;Eiji Takeda;Hidekazu Arai;Junko Matsuda
