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Updated: Sep 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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病例报告:全基因组测序确定了X链接阿尔波特综合征中不确定的新型深层内基因COL4A5变异

Hoon Seok Kim1,2, Myungshin Kim1,2, Jin-Soon Suh3

  • 1Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Frontiers in pediatrics
|August 25, 2025
PubMed
概括

通过标准的基因检测来诊断阿尔波特综合征是很困难的, 全基因组测序 (WGS) 发现了COL4A5中的新型深层内基因变异,有助于在具有挑战性的X链接阿尔波特综合征病例中进行诊断.

关键词:
其他类型阿波特综合征深层内部变种儿童脏病学全基因组测序

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