在患有血管埃勒斯-丹洛斯综合征的患者中发现了两种新的COL3A1变异

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Won Young Heo1, Shin Yi Jang2, Taek Kyu Park2

  • 1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

Molecular genetics & genomic medicine
|July 18, 2023
PubMed
概括

对血管埃勒斯-丹洛斯综合征 (vEDS) 的遗传检测需要超越桑格测序的先进方法. 下一代测序和补充DNA分析对于检测COL3A1缺失和拼接变异至关重要,提高了这种罕见的结缔组织疾病的诊断准确性.

关键词:
在 COL3A1A1 中.拼接AIAI是什么意思在mRNA测序过程中,血管疾病 埃勒斯-丹洛斯综合征进行全基因组测序.

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