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Sequencing of 38 mutations in the CFTR gene – cystic fibrosis research

Cystic fibrosis (CF) is an inherited genetic disease that affects the lungs, digestive system, and other organs.
It is caused by mutations in the CFTR gene, which disrupts the movement of chloride ions into cells, resulting in the production of thick, sticky mucus.
Mucus blocks the respiratory tract and digestive tract, leading to chronic infections and poor digestion of food.

The test includes sequencing of the 38 most common mutations in the CFTR gene.

The aim of the research is to genetic diagnostics of cystic fibrosis (CF) and related disorders.

 

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