从纤毛病患者的KIF3B突变引起疾病的机制的表征

Jessica M Adams1, Caleb Sawe1, Skye Rogers1

  • 1School of Biological Sciences, Cell Physiology, Illinois State University, Normal, IL, United States.

概括

在KIF3B基因素-2电机中引起疾病的突变会损害纤毛发育和纤毛功能. 这项研究揭示了E250Q,L523P和A334T KIF3B突变的特定分子缺陷,解释了相关的人类和猫科动物疾病.

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