mRNA ‐based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity
Author:
Affiliation:
1. University of LisboaFaculty of Sciences, BioISI ‐ Biosystems & Integrative Sciences Institute Lisboa Portugal
Funder
Cystic Fibrosis Foundation
Vertex Pharmaceuticals
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12802
Reference23 articles.
1. Cystic Fibrosis
2. CFTR Mutation Database fromhttp://www.genet.sickkids.on.ca/Home.html. Accessed April 2016.
3. Refining the continuum of CFTR-associated disorders in the era of newborn screening
4. Cystic fibrosis: terminology and diagnostic algorithms
5. Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
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