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Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
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L467F;F508del复合等位基因在异构状态与CFTRdele2,3:从CFTR调节器期望什么?

Elena Kondratyeva1, Anna Efremova1, Yuliya Melyanovskaya1

  • 1Research Centre for Medical Genetics, 1 Moskvorechye St., 115552 Moscow, Russia.

International journal of molecular sciences
|December 11, 2025
PubMed
概括

在复杂基因型的囊性纤维化患者中,CFTR调节器显示出有效性,包括I类变异. 这项研究表明,对具有罕见L467F;F508del/CFTRdele2,3基因型的双胞胎进行个性化治疗选择.

关键词:
在CFTR基因.F508del 是一个字母.在L467F中使用.一个复杂的等位基因.囊性纤维化症是什么肠道电流测量测量肠道有机体是什么意思胰腺炎是一种炎症.有针对性的治疗.

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