One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study

Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by deleterious mutations in the CFTR gene. Conventionally, the disease is diagnosed in several phases. The analysis of all the possible disease-ca...

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Vydáno v:	Clinica chimica acta Ročník 552; s. 117625
Hlavní autoři:	Nunziato, Marcella, Starnone, Flavio, Giordano, Sonia, D'Antonio, Marcella, Scognamiglio, Domenico, Esposito, Maria Valeria, Correra, Antonio, Di Maggio, Federica, D'Argenio, Valeria, Luca Scaglione, Giovanni, Castaldo, Giuseppe, Salvatore, Francesco
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Netherlands 01.01.2024
Témata:	Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genetic Testing - methods Humans Infant, Newborn Mutation Neonatal Screening - methods Pilot Projects Sensitivity and Specificity Cystic fibrosis Analytical sensitivity increase Guthrie dried blood spot Next generation sequencing One-step newborn screening
ISSN:	0009-8981, 1873-3492, 1873-3492
On-line přístup:	Získat plný text
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