Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome

Pathogenic CFTR variants cause cystic fibrosis (CF), and CF-related disorders (CF-RD), including bilateral aplasia of the vas deferens (CBAVD). The spectrum of clinical manifestations depends on the CFTR genotype. The frequency and spectrum of the CFTR variants vary between populations and clinical...

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Detalles Bibliográficos
Autores principales: Chernykh, Vyacheslav, Krasovsky, Stanislav, Solovova, Olga, Adyan, Tagui, Stepanova, Anna, Marnat, Ekaterina, Shtaut, Maria, Sedova, Anna, Sorokina, Tatyana, Beskorovainaya, Tatyana, Kondratyeva, Elena, Shchagina, Olga, Polyakov, Aleksandr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671388/
https://www.ncbi.nlm.nih.gov/pubmed/38003474
http://dx.doi.org/10.3390/ijms242216287

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