A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis-Reference-Cited by-同舟云学术

A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

Published:2011-12 Issue:6 Volume:10 Page:412-417
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Costantino Lucy,Rusconi Damiana,Claut Laura,Colombo Carla,Novara Francesca,Paracchini Valentina,Porcaro Luigi,Capasso Patrizia,Zuffardi Orsetta,Seia Manuela

Funder

Italian Ministry of University and Research (MIUR)

Regione Lombardia

Italian Cystic Fibrosis Research Foundation

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference16 articles.

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4. Cystic fibrosis: a worldwide analysis of CFTR mutations — correlation with incidence data and application to screening;Bobadilla;Hum Mutat,2002

5. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions;Paracchini;Clin Genet,2008

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2. Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD;Molecular Genetics & Genomic Medicine;2020-09-19

3. Current and future molecular approaches in the diagnosis of cystic fibrosis;Expert Review of Respiratory Medicine;2018-04-19

4. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH;Clinical Genetics;2017-09-15

5. Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis;Scientific Reports;2016-12