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Updated: Sep 11, 2025

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
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在48名囊性纤维化患者中,遗传异质与表型变异相关

Mădălina Andreea Donos1, Lăcrămioara Ionela Butnariu2, Dana Teodora Anton Păduraru1

  • 1Department of Mother and Child, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.

Journal of clinical medicine
|August 14, 2025
PubMed
概括

这项研究在罗马尼亚患者中确定了常见和新型的囊性纤维化跨膜导电性调节器 (CFTR) 基因变异,将基因型与疾病严重程度相关联. 早期遗传测试和新型变异鉴定对于个性化囊性纤维化管理至关重要.

关键词:
在CFTR中,CFTR是最重要的.没有NGS,没有NGS.基因型 基因型 基因型它们是异构的,具有异构性.同性异质的 同性异质的 同性异质的变种 变种 变种 变种 变种

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