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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Λεπτομέρειες βιβλιογραφικής εγγραφής
Εκδόθηκε σε:	J Clin Invest
Κύριοι συγγραφείς:	Hamosh, A, Trapnell, B C, Zeitlin, P L, Montrose-Rafizadeh, C, Rosenstein, B J, Crystal, R G, Cutting, G R
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	American Society for Clinical Investigation 1991
Θέματα:	Research Article
Διαθέσιμο Online:	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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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.

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