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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Main Authors: Gasparini, P, Borgo, G, Mastella, G, Bonizzato, A, Dognini, M, Pignatti, P F
Formato: Artigo
Idioma:Inglês
Publicado: 1992
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016062/
https://ncbi.nlm.nih.gov/pubmed/1381442
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