The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Feb. 12, 2008
Filed:
May. 02, 2006
Applicants:
Saori Kitao, Kamakura, JP;
Akira Shimamoto, Kamakura, JP;
Yasuhiro Furuichi, Kamakura, JP;
Inventors:
Assignee:
Agene Research Institute Co., Ltd., Kamakura-Shi, JP;
Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2006.01);
U.S. Cl.
CPC ...
Abstract
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.