发明名称 |
GENE CAUSATIVE OF ROTHMUND-THOMSON SYNDROME AND GENE PRODUCT |
摘要 |
It has been clarified that RecQ4 helicase gene belonging to the RecQ helicase gene family is causative of Rothmund-Thomson syndrome. By detecting the occurrence of a mutation in this gene, Rothmund-Thomson syndrome can be examined. Further, patients with Rothmund-Thomson syndrome can be treated by using normal RecQ4 helicase gene, its protein, etc.
|
申请公布号 |
WO0043522(A1) |
申请公布日期 |
2000.07.27 |
申请号 |
WO2000JP00233 |
申请日期 |
2000.01.19 |
申请人 |
AGENE RESEARCH INSTITUTE CO., LTD.;KITAO, SAORI;SHIMAMOTO, AKIRA;FURUICHI, YASUHIRO |
发明人 |
KITAO, SAORI;SHIMAMOTO, AKIRA;FURUICHI, YASUHIRO |
分类号 |
C12N1/21;C12N9/90;C12Q1/68;G01N33/573;(IPC1-7):C12N15/52;G01N33/50;A61K38/43 |
主分类号 |
C12N1/21 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|