IRDS的遗传基础和遗传检测的作用

Gareth D Mercer1, Brian G Ballios1, Peter J Kertes2

  • 1Department of Ophthalmology & Vision Sciences, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

概括

遗传性视网膜疾病 (IRD) 主要是单一的,涉及300多个基因. 遗传变异,大多是错误或无意义突变,导致这些疾病,影响视觉通路和光受体结构.

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