Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]

The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators. Tezacaftor/ivacaftor therapy for 8 months in a patient with the initially established F508del/F508del genotype did not lead to an improvement...

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Detalles Bibliográficos
Autores principales: Kondratyeva, Elena, Bulatenko, Nataliya, Melyanovskaya, Yuliya, Efremova, Anna, Zhekaite, Elena, Sherman, Viktoriya, Voronkova, Anna, Asherova, Irina, Polyakov, Alexander, Adyan, Tagui, Kovalskaia, Valeriia, Bukharova, Tatiana, Goldshtein, Dmitry, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600521/
https://www.ncbi.nlm.nih.gov/pubmed/36286063
http://dx.doi.org/10.3390/cimb44100349

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600521/
https://www.ncbi.nlm.nih.gov/pubmed/36286063
http://dx.doi.org/10.3390/cimb44100349

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