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Flashcards in Monogenic disease Deck (4)
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How is cystic fibrosis caused?

A mutation in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR)


Where is the CFTR found?

In sweat and pancreatic ducts, gut, seminiferous tubules, lungs and many other tissues.


What does an abnormal CFTR protein produce?

A thick dehydrated secretion in the lungs.


What parts of the body does CF affect?

The lungs, gut, pancreas, over and reproductive tract.