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CFTR gene (cystic fibrosis transmembrane conductance regulator)

CFTR gene (cystic fibrosis transmembrane conductance regulator)
Schematic representation of the CFTR gene and its encoded polypeptide. ΔF508 refers to the site of the most common variant causing cystic fibrosis, also known as F508del.
CFTR: cystic fibrosis transmembrane conductance regulator gene.
Redrawn from Welsh, MJ, Tsui, L-C, Boat, T, Beaudet, AL. Cystic fibrosis. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver, CR, Beaudet, AL, Sly, WS, et al (Eds), McGraw-Hill, New York, 1995, p. 3801.
Graphic 60265 Version 4.0

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