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Gene causative of Rothmund-Thomson syndrome and gene product
Gene causative of Rothmund-Thomson syndrome and gene product
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机译:Rothmund-Thomson综合征的基因成因和基因产物
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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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