Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants-Reference-Cited by-同舟云学术

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Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants

Published:2020-11 Issue: Volume: Page:
ISSN:0300-2896
Container-title:Archivos de Bronconeumología
language:en
Short-container-title:Archivos de Bronconeumología

Author:

Álvarez Antonio,Loor Karina,Fernández-Alvarez Paula,Gartner Silvia,Polverino Eva,Culebras Mario,Clofent David,García Arumí Elena,Tizzano Eduardo F.,de Gracia Javier

Funder

Fundación Mutua Madrileña. XIV Convocatoria de Ayudas a la Investigación en Salud. 2017

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine

Reference19 articles.

1. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice;Castellani;J Cyst Fibros,2008

2. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations;Dequeker;Eur J Hum Genet,2009

3. Applicability and efficiency of NGS in routine diagnosis: in-depth performance analysis of a complete workflow for CFTR mutation analysis;Pagin;PLOS ONE,2016

4. Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology;Bergougnoux;Clin Chem Lab Med,2018

5. A new cryptic CFTR exon in mild CF;Costa,2009

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