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Updated: Jul 19, 2025

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与星病相关的误解和同名的ABCA4变体导致异常拼接

Melita Kaltak1,2, Zelia Corradi1, Rob W J Collin1

  • 1Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.

Human molecular genetics
|August 9, 2023
PubMed
概括

误解和同义变体在ABCA4中通过破坏拼接引起星病 (STGD1). 这项研究证实了它们在拼接异常,改进变异分类和指导新的STGD1治疗策略方面的作用.

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