Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases.

Abstract

Human cells express five DNA helicases that are paralogs of Escherichia coli RecQ and which constitute the family of human RecQ helicases. Disease-causing mutations in three of these five human DNA helicases, BLM, WRN, and RECQL4, cause rare severe human genetic diseases with distinct clinical phenotypes characterized by developmental defects, skin… (More)

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@article{Ellis2008BloomsSW, title={Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases.}, author={Nathan A. Ellis and Miriam Sander and Curtis C. Harris and Vilhelm A. Bohr}, journal={Mechanisms of ageing and development}, year={2008}, volume={129 11}, pages={681-91} }