Article
Cystic fibrosis in the year 2020: A disease with a new face.
Acta paediatrica (Oslo, Norway : 1992) - 1 May 2020
De Boeck Kris
Abstract excerpt
The autosomal recessive disease cystic fibrosis (CF) was once untreatable and deadly in childhood, but now most patients survive to adulthood. Many countries have instituted CF newborn screening because early diagnosis improves outcome. CF research has greatly intensified following the discovery of the CF transmembrane conductance regulator (CFTR) gene, which has more than 2000 different mutations. For patients...
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