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Correctors of the basic trafficking defect of the mutant F508del-CFTR that causes cystic fibrosis

✍ Scribed by Birault, Véronique; Solari, Roberto; Hanrahan, John; Thomas, David Y


Book ID
122594412
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
689 KB
Volume
17
Category
Article
ISSN
1367-5931

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Cystic fibrosis patients with mutation 1
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The majority of the identified cystic fibrosis (CF) mutations are very uncommon in the total patient population, making the correlation between the clinical presentation and the molecular alterations difficult. The largest deletion that has been described so far in C F is of 84 bp in exon 13, which