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Flashcards in Monogenic disease Deck (4)
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1

How is cystic fibrosis caused?

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

2

Where is the CFTR found?

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

3

What does an abnormal CFTR protein produce?

A thick dehydrated secretion in the lungs.

4

What parts of the body does CF affect?

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