Article
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Orphanet journal of rare diseases - 13 Jun 2022
Rueda-Nieto Senay, Mondejar-Lopez Pedro, Mira-Escolano María-Pilar, Cutillas-Tolín Ana, Maceda-Roldán Luis Alberto, Arense-Gonzalo Julián Jesús, Palomar-Rodríguez Joaquín A
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the disease. Most of the studies analysed determinate clinical manifestations or specific sequence variants in patients from clinical units. Others used registry data without addressing the...
Read the complete abstract on PubMedTopics
- Cross-Sectional Studies
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genotype
- Humans