Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

The intricate nature of complex alleles presents challenges in the classification of <i>CFTR</i> gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from international databases, with i...

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Bibliographic Details
Main Authors: Elena Kondratyeva, Yuliya Melyanovskaya, Anna Efremova, Mariya Krasnova, Diana Mokrousova, Nataliya Bulatenko, Nika Petrova, Alexander Polyakov, Tagui Adyan, Valeriia Kovalskaia, Tatiana Bukharova, Andrey Marakhonov, Rena Zinchenko, Elena Zhekaite, Artem Buhonin, Dmitry Goldshtein
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
cystic fibrosis (CF)
complex allele
targeted therapy
intestinal current measurements (ICM)
intestinal organoids
Online Access:https://www.mdpi.com/2073-4425/14/9/1705

Internet

https://www.mdpi.com/2073-4425/14/9/1705

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