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The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients

RECQL4 is one of five members of the human RecQ helicase family, and is implicated in three syndromes displaying accelerating aging, developmental abnormalities and a predisposition to cancer. In this study, we purified three variants of RECQL4 carrying previously reported patient mutations. These t...

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Autori principali: Jensen, Martin Borch, Dunn, Christopher A., Keijzers, Guido, Kulikowicz, Tomasz, Rasmussen, Lene Juel, Croteau, Deborah L., Bohr, Vilhelm A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Impact Journals LLC 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3560432/
https://ncbi.nlm.nih.gov/pubmed/23238538
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