Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Cystic fibrosis (CF) is the most common, lethal inherited disorder in the Caucasian population. We have recently reported two African-American patients with nonsense mutations in each CF gene and severe pancreatic disease, but mild pulmonary disease. In order to examine the effect of these nonsense...

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Publicat a:	J Clin Invest
Autors principals:	Hamosh, A, Trapnell, B C, Zeitlin, P L, Montrose-Rafizadeh, C, Rosenstein, B J, Crystal, R G, Cutting, G R
Format:	Artigo
Idioma:	Inglês
Publicat:	American Society for Clinical Investigation 1991
Matèries:	Research Article
Accés en línia:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295756/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1721624/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115510
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