发明名称 |
The acid sphingomyelinase gene and diagnosis of niemann-pick disease. |
摘要 |
<p>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.</p> |
申请公布号 |
EP0520843(A2) |
申请公布日期 |
1992.12.30 |
申请号 |
EP19920401241 |
申请日期 |
1992.04.30 |
申请人 |
MOUNT SINAI MEDICAL CENTER |
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 |
主分类号 |
G01M1/38 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|