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基因检测和新变异在先天性 ichthyoses 的诊断

Milja Salo1, Teija Kimpimäki1,2, Heini Huhtala3

  • 1Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.

Molecular genetics & genomic medicine
|August 27, 2024
PubMed
概括

在2000年至2020年期间,先天性 ichthyosis 的诊断实践发生了显著的变化. 基因检测,特别是下一代测序,成为诊断罕见的基因变异在 ichthyosis 患者的关键.

关键词:
遗传学 遗传学 遗传学 遗传学 是一个基因检测 基因检测是指基因检测.高通量核酸测序的核酸测序这就是病症.罕见的疾病 罕见的疾病序列分析分析的序列分析.皮肤疾病 皮肤疾病

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