发明名称 |
Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease |
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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申请公布号 |
US6541218(B1) |
申请公布日期 |
2003.04.01 |
申请号 |
US19980106375 |
申请日期 |
1998.06.29 |
申请人 |
THE MOUNT SINAI SCHOOL OF MEDICINE OF THE CITY UNIVERSITY OF NEW YORK |
发明人 |
SCHUCHMAN EDWARD H.;DESNICK ROBERT J. |
分类号 |
G01M1/38;A01K67/027;A61K38/00;C12N9/16;C12N15/55;C12N15/85;C12Q1/68;G01M1/20;G01M1/32;(IPC1-7):C07H21/02;C07H21/04;C12N9/14;A61K38/43 |
主分类号 |
G01M1/38 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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