Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

The clinical course of nine cystic fibrosis patients homozygous for the CF gene nonsense mutation R1162X was investigated. Since this mutation should lead to an interruption in the synthesis of the cystic fibrosis transmembrane regulator (CFTR) protein, a severe clinical course was expected. All pat...

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Hlavní autoři: Gasparini, P, Borgo, G, Mastella, G, Bonizzato, A, Dognini, M, Pignatti, P F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016062/
https://ncbi.nlm.nih.gov/pubmed/1381442
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