CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

In order to analyse the influence of the nonsense mutation R553X on CFTR gene expression, transcripts from epithelial cells and lymphocytes were examined from nine subjects (one CF patient homozygous for R553X, one CF patient compound heterozygous for R553X/delta F508, four CF carriers heterozygous...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Will, K, Reiss, J, Dean, M, Schlösser, M, Slomski, R, Schmidtke, J, Stuhrmann, M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1993
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016565/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7693946/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.833
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