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在韩国,为患有外皮质症的患者进行基因分析和诊断策略

Man Jin Kim1, Jee-Soo Lee2, Seung Won Chae2,3

  • 1Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.

Orphanet journal of rare diseases
|September 7, 2024
PubMed
概括

针对外皮性发育不良 (ED) 的基因检测有效地识别突变. 针对性测序对经典症状是最好的,而整个外体序列测序在没有症状时有助于诊断.

关键词:
皮外性发育不良症 皮外性发育不良症外体序列排序是如何进行的遗传性疾病是一种遗传性疾病.高通量核酸测序的测序在内生生儿内生儿韩国 韩国 韩国 韩国

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