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cystic fibrosis transmembrane conductance regulator

   Also found in: Acronyms, Encyclopedia, Wikipedia 0.01 sec.
cystic fibrosis transmembrane conductance regulator,
a regulator of secretion in many exocrine tissues. Abnormalities in the gene cause cystic fibrosis, leading to abnormal chloride channels in cell membranes of the respiratory epithelium, pancreas, salivary glands, sweat glands, intestines, and reproductive tract. Also called cystic fibrosis transmembrane regulator, cystic fibrosis transmembrane regulator protein.


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CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).
The kit simultaneously screens for the 23 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and 4 variants (polymorphisms), as recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) in 2004.
Using proprietary expertise in ion channels, including high-content cell assays and medicinal chemistry, Vertex has focused on designing selective ion channel modulators that could restore the function of the defective Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein.
 
 
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