Novel SF3B1 in-frame deletions result in aberrant RNA splicing in CLL patients.

Anant A Agrawal,Michael Seiler,Lindsey T Brinton,Rose Mantel,Rosa Lapalombella,Jennifer A Woyach,Amy J Johnson,Ping Zhu,Markus Warmuth,Lihua Yu,John C Byrd,Peter G Smith,James S Blachly,Silvia Buonamici

Blood advances（2017）

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摘要

We identify and characterize novel SF3B1 in-frame deletions in chronic lymphocytic leukemia.These deletions are functionally similar to well-known SF3B1 hotspot mutations and are sensitive to splicing modulation.

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