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acid sphingomyelinase gene and diagnosis of niemann - pick disease
acid sphingomyelinase gene and diagnosis of niemann - pick disease
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机译:酸鞘磷脂酶基因与niemann-pick病的诊断;
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摘要
The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase and on the discovery of mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.
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