Biochemical Properties of Naturally Occurring Human Bloom Helicase Variants
R. R. Cueny, S. Varma, K. H. Schmidt, J. L. Keck
This study characterizes the biochemical properties of naturally occurring BLM mutations, finding that P868L and G1120R retain helicase function but may contribute to genome instability, while K869A K870A shows reduced ATPase and helicase activity.
bioRxiv · Jan 26, 2023 · PreprintBiochemistry