异形性肺纤维化:对患有家族性肺纤维化病例的患者预易性变体的分析

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Ilaria Stanghellini1, Elena Bonora2,3, Marco Sebastiani4,5

  • 1Medical Genetics Unit, Azienda Ospedaliero-Universitaria Policlinico di Modena, 41124 Modena, Italy.

Biomedicines
|January 28, 2026
PubMed
概括

基因组重组,包括拷贝数变异 (CNVs),在家族性肺纤维化中很常见. 相对基因组杂交-单核酸多态 (CGH-SNP) 阵列可以识别这些变体,有助于诊断异常性肺纤维化 (IPF).

关键词:
在 CGH-SNP 阵列中,MUC5B 多态性多态性在 NGS 面板上,NGS 面板是指 NGS 面板.异形性肺纤维化 异形性肺纤维化预定性变体的变体

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