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Updated: Sep 10, 2025

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眼皮白化1A型的遗传诊断:一种新的TYR变体

Raghad N Shihab1, Rusul Thabit Hamid1, Mostafa Neissi2,3,4

  • 1Cancer Researches Department, Iraqi Center for Cancer and Medical Genetic Research Mustansiriyah University Baghdad Iraq.

Clinical case reports
|August 27, 2025
PubMed
概括

研究人员在患有眼皮白化类型IA (OCA1A) 的患者中发现了一种新的TYR基因变异p.Gln48Pro. 这一发现扩大了已知的白化遗传原因, 并强调了基因检测的价值.

关键词:
一个 TYR 基因外体序列测序眼皮白化症变种

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