Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry

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 s...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9195274/
https://www.ncbi.nlm.nih.gov/pubmed/35698092
http://dx.doi.org/10.1186/s13023-022-02373-y

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