Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis - Straniero, Letizia; Soldà, Giulia; Costantino, Lucy; Seia, Manuela; Melotti, Paola; Colombo, Carla; Asselta, Rosanna; Duga, Stefano (Journal of human genetics, 2016)
Keywords: Alleles; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Epithelial Sodium Channels - genetics; Female; Gene Order; Genotype; High-Throughput Nucleotide Sequencing; Humans; Introns; Male; Mutation; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing; Sequence Deletion; Transcription, Genetic