RESPIRATORY
CYSTIC FIBROSIS
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Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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HTT
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PINK1
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CFTR
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HBB
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Detailed explanation-1: -What causes cystic fibrosis? Cystic fibrosis is an inherited disease caused by mutation in a genes called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene provides instructions for the CFTR protein.
Detailed explanation-2: -To date, over 700 mutations of the CFTR gene have been identified. A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is delta F508, accounting for approximately 70% of all mutations.
Detailed explanation-3: -More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes.