Gene causative of Rothmund-Thomson syndrome and gene product

Details Gene causative of Rothmund-Thomson syndrome and gene product Gene causative of Rothmund-Thomson syndrome and gene product

2006-07-25

2006-07-25

Yaen, Christopher (Department: 1643)

Chemistry: natural resins or derivatives; peptides or proteins;

Proteins, i.e., more than 100 amino acid residues

Blood proteins or globulins, e.g., proteoglycans, platelet...

C530S387100

Reexamination Certificate

active

07081522

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.

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