Article
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
Molecular biology of the cell - 1 Mar 1999
Neff N F, Ellis N A, Ye T Z, Noonan J, Huang K, Sanz M, Proytcheva M
Abstract excerpt
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLM encodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into...
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