Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing-Reference-Cited by-同舟云学术

Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing

Published:2022-04-07 Issue:5 Volume:43 Page:595-603
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Dilernia Dario¹²^ORCID,Amin Pooneh²,Flores Julie³,Stecenko Arlene³,Sorscher Eric³

Affiliation:

1. Department of Pathology, School of Medicine Emory University Atlanta Georgia USA

2. Emory Vaccine Center Emory University Atlanta Georgia USA

3. Department of Pediatrics, School of Medicine Emory University, and the Emory + Children's Center for Cystic Fibrosis and Airways Disease Research Atlanta Georgia USA

Funder

Cystic Fibrosis Foundation

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24352

Reference39 articles.

1. Genomic rearrangements in theCFTRgene: Extensive allelic heterogeneity and diverse mutational mechanisms

2. The next phase in human genetics

3. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

4. Relative Contribution of Genetic and Nongenetic Modifiers to Intestinal Obstruction in Cystic Fibrosis

5. Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

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