Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

Abstract Background Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non‐pathogenic variants described in association with a broad clinical heterogeneity. The most common types of mutation...

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Bibliographic Details
Main Authors: Raisa da Silva Martins, Mario Campos Junior, Aline dosSantos Moreira, Verônica Marques Zembrzuski, Ana Carolina Proença daFonseca, Gabriella de Medeiros Abreu, Pedro Hernan Cabello, Giselda Maria Kalil deCabello
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CFTR
CNV
Cystic Fibrosis
MLPA
Mutation
Online Access:https://doi.org/10.1002/mgg3.645

Internet

https://doi.org/10.1002/mgg3.645

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