Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease

Cystic fibrosis is the most common, life-threatening, autosomal recessive disease in the Caucasian population. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, which encodes a chloride ion channel expressed on the surface of epithelial cells. There are more...

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Detalles Bibliográficos
Autores principales: Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Rtskhiladze, Irakli, Zaalishvili, Zurab, Nakaidze, Nata, Lentze, Michael J, Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233568/
https://www.ncbi.nlm.nih.gov/pubmed/37274939
http://dx.doi.org/10.1177/2050313X231177163

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