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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Detaylı Bibliyografya
Yayımlandı:J Med Genet
Asıl Yazarlar: Gasparini, P, Borgo, G, Mastella, G, Bonizzato, A, Dognini, M, Pignatti, P F
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 1992
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016062/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1381442/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.8.558
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