Article

Dysfunction of CFTR bearing the AF508 mutation

1993-12-01

Abstract excerpt

ABSTRACT The cystic fibrosis transmembrane conductance regulator (CFTR) is mutated in patients with cystic fibrosis (CF). The most common CF-associated mutation is deletion of phenylanine at residue 508, CFTRAF508. When expressed in heterologous cells, CFTR bearing the AF508 mutation fails to progress through the normal biosynthetic pathway and fails to traffic to the plasma membrane. As a result, CFTRAF508 is mis...

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Identifiers and source

Literature Corpus work: 4604666b-c086-59aa-849e-7a11ad80193b
DOI: 10.1242/jcs.1993.supplement_17.33

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