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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Bibliographic Details
Main Authors: Manuela Sterrantino, Andrea Fuso, Silvia Pierandrei, Sabina Maria Bruno, Giancarlo Testino, Giuseppe Cimino, Antonio Angeloni, Marco Lucarelli
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Diagnostics
Subjects:
Online Access:https://www.mdpi.com/2075-4418/11/2/168