US2006240470A1PendingUtilityA1

Gene causative of Rothmund-Thomson syndrome and gene product

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Assignee: AGENE RES INST CO LTDPriority: Jan 19, 1999Filed: Jun 30, 2006Published: Oct 26, 2006
Est. expiryJan 19, 2019(expired)· nominal 20-yr term from priority
Inventors:Saori KitaoAkira ShimamotoYasuhiro Furuichi
G01N 2333/99C12Q 2600/156G01N 33/573C12N 9/90C12Q 1/6883
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Claims

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.

Claims

exact text as granted — not AI-modified
1 - 15 . (canceled)  
     
     
         16 . A diagnostic agent for Rothmund-Thomson syndrome, wherein the agent comprises a monoclonal antibody which specifically binds to RecQ4 he1icase of SEQ ID No: 4, wherein said antibody binds to amino acids 907-1208 of SEQ ID No: 4.

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