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Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients' Samples Reveals Perturbations in Tissue-Specific Pathways
Cystic fibrosis (CF) is an autosomal recessive disorder, caused by diverse genetic variants for the CF transmembrane conductance regulator (CFTR) protein. Among these, p.Phe508del is the most prevalent variant. The effects of this variant on the physiology of each tissue remains unknown. This study...
Autores principales: | de Faria Poloni, Joice, Rispoli, Thaiane, Rossetti, Maria Lucia, Trindade, Cristiano, Vargas, José Eduardo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660202/ https://www.ncbi.nlm.nih.gov/pubmed/34901273 http://dx.doi.org/10.1155/2021/5262000 |
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