发明名称 |
Gene causative of Rothmund-Thomson syndrome and its gene product |
摘要 |
The RecQ4 helicase gene, belonging to the RecQ helicase gene family, is revealed herein to be the causative gene of Rothmund-Thomson syndrome. The present inventors found out that it is possible to diagnose Rothmund-Thomson syndrome by detecting mutation of this gene. Further, they uncovered that it is possible to treat patients of Rothmund-Thomson syndrome by utilizing normal RecQ4 helicase gene or proteins thereof.
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申请公布号 |
US7329497(B2) |
申请公布日期 |
2008.02.12 |
申请号 |
US20060415100 |
申请日期 |
2006.05.02 |
申请人 |
AGENE RESEARCH INSTITUTE CO., LTD. |
发明人 |
KITAO SAORI;SHIMAMOTO AKIRA;FURUICHI YASUHIRO |
分类号 |
C12Q1/68;C12N1/21;C12N9/90;G01N33/573 |
主分类号 |
C12Q1/68 |
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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