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Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract

Genetic analysis in cystic fibrosis (CF) is a difficult task. Within the many causes of variability and uncertainty, a major determinant is poor knowledge of the functional effect of most DNA variants of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. In turn, knowledge of the e...

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Detalles Bibliográficos
Autores principales: Sterrantino, Manuela, Fuso, Andrea, Pierandrei, Silvia, Bruno, Sabina Maria, Testino, Giancarlo, Cimino, Giuseppe, Angeloni, Antonio, Lucarelli, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911278/
https://www.ncbi.nlm.nih.gov/pubmed/33504063
http://dx.doi.org/10.3390/diagnostics11020168