Article
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.
Biochimica et biophysica acta - 1 Nov 2012
Croteau Deborah L, Rossi Marie L, Ross Jennifer, Dawut Lale, Dunn Christopher, Kulikowicz Tomasz, Bohr Vilhelm A
Abstract excerpt
The RecQ family of helicases has been shown to play an important role in maintaining genomic stability. In humans, this family has five members and mutations in three of these helicases, BLM, WRN and RECQL4, are associated with disease. Alterations in RECQL4 are associated with three diseases, Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome. One of the more common mutations found in...
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