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

Additional evidence on the phenotype produced by combination of 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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Main Authors: Tinatin Tkemaladze, Eka Kvaratskhelia, Mariam Ghughunishvili, Irakli Rtskhiladze, Zurab Zaalishvili, Nata Nakaidze, Michael J Lentze, Elene Abzianidze, Volha Skrahina, Arndt Rolfs
Format: Article
Language:English
Published: SAGE Publishing 2023-05-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X231177163

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https://doi.org/10.1177/2050313X231177163

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