Things come in threes: A new complex allele and a novel deletion within the <i>CFTR</i> gene complicate an accurate diagnosis of cystic fibrosis-Reference-Cited by-同舟云学术

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

Published:2022-03-29 Issue:6 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Persico Ilaria¹,Feresin Agnese¹,Faleschini Michela²,Fontana Giorgia²,Sirchia Fabio²,Faletra Flavio²^ORCID,La Bianca Martina²,Suergiu Sarah²,Morgutti Marcello²,Maschio Massimo²,D'Adamo Adamo Pio¹,Raraigh Karen S.³,Savoia Anna¹²,Bottega Roberta²^ORCID

Affiliation:

1. Department of Medical Sciences University of Trieste Trieste Italy

2. Institute for Maternal and Child Health – IRCCS Burlo Garofolo Trieste Italy

3. McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1926

Reference16 articles.

1. Cisvariants identified in F508del complex alleles modulate CFTR channel rescue by small molecules

2. European best practice guidelines for cystic fibrosis neonatal screening

3. The influence of CFTR complex alleles on precision therapy of cystic fibrosis

4. CFTRmutation combinations producing frequent complex alleles with different clinical and functional outcomes

5. Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

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1. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy;International Journal of Molecular Sciences;2023-12-21