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Article

A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.

The Journal of molecular diagnostics : JMD - 1 Sept 2017

Lucarelli Marco, Porcaro Luigi, Biffignandi Alice, Costantino Lucy, Giannone Valentina, Alberti Luisella, Bruno Sabina Maria, Corbetta Carlo, Torresani Erminio, Colombo Carla, Seia Manuela

Abstract excerpt

Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy. The large number of mutations and genetic and phenotypic variability make this search a complex task. Herein, we developed, validated, and tested a laboratory...

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Source

Identifiers

PMID: 28736296
DOI: 10.1016/j.jmoldx.2017.06.002

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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