Mutations in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are the root cause of fibrosis.
Mutations in the CFTR gene result in the dysfunction or absence of the CFTR protein, which results in the accumulation of thick mucus, which in turn causes recurring lung infections, pancreatic damage, and difficulties in other organs. One example of a recessive disease is cystic fibrosis.
Cystic fibrosis is brought on by mutations in the CFTR gene. The CFTR gene encodes a channel that allows chloride ions, which are negatively charged particles, to enter and exit cells.
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