| 发明名称 |
METHOD AND PROBES FOR DETECTION OF ALPORT SYNDROME |
| 摘要 |
The present invention relates to a method for identifying an individual possessing a genetic defect associated with Alport syndrome which comprises analyzing the DNA of the individual to be tested by a method capable of detecting variation in a DNA sequence, and observing the presence or absence of a variation in the COL4A5 gene, in comparison with a normal COL4A5 gene. |
| 申请公布号 |
AU8060591(A) |
申请公布日期 |
1991.12.31 |
| 申请号 |
AU19910080605 |
申请日期 |
1991.06.07 |
| 申请人 |
UNIVERSITY OF UTAH |
发明人 |
KARL TRYGGVASON;SIRKKA LIISA HOSTIKKA;CURT L ATKIN;DAVID F BARKER;ARNOLD OLIPHANT;MARK H. SKOLNICK |
| 分类号 |
A61K38/00;C07K14/78;C12N15/85;C12Q1/68 |
主分类号 |
A61K38/00 |
| 代理机构 |
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