Article

Biochemical Properties of Naturally Occurring Human Bloom Helicase Variants

2023-01-26

Abstract excerpt

Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Bloom syndrome (BS), an autosomal recessive disorder that leads to myriad negative health impacts including a predisposition to cancer. BS-causing mutations in BLM often negatively impact BLM ATPase and helicase activi...

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Literature Corpus work: 7d7ecf8d-1680-55f0-a652-f8abea2c6bc5
DOI: 10.1101/2023.01.26.525669

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