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Article

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

Journal of human genetics - 1 Dec 2016

Straniero Letizia, Soldà Giulia, Costantino Lucy, Seia Manuela, Melotti Paola, Colombo Carla, Asselta Rosanna, Duga Stefano

Abstract excerpt

Despite extensive screening, 1-5% of cystic fibrosis (CF) patients lack a definite molecular diagnosis. Next-generation sequencing (NGS) is making affordable genetic testing based on the identification of variants in extended genomic regions. In this frame, we analyzed 23 CF patients and one carrier by whole-gene CFTR resequencing: 4 were previously characterized and served as controls; 17 were cases lacking a...

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Share to Cystic Fibrosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27488443
DOI: 10.1038/jhg.2016.101

Genes

CFTR

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