Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene
Journal of Cystic Fibrosis, 06/22/2012
Poulou M et al. – In a diagnostic environment the answers have to be given within a specific timeframe, the in silico tools in combination with the phenotype offer some help but their diagnostic value is limited and cannot be used in isolation for the determination of the severity of the mutation.
