Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene-Reference-Cited by-同舟云学术

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Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene

Published:2019-10-08 Issue:10 Volume:14 Page:e0222838
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Pierandrei Silvia,Blaconà Giovanna,Fabrizzi Benedetta,Cimino Giuseppe,Cirilli Natalia,Caporelli Nicole,Angeloni Antonio,Cipolli Marco,Lucarelli Marco^ORCID

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference40 articles.

1. Cystic fibrosis genetics: from molecular understanding to clinical application;GR Cutting;Nature reviews Genetics,2015

2. A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis;M Lucarelli;Mol Med,2015

3. Cystic fibrosis;JS Elborn;Lancet,2016

4. A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation;M Lucarelli;Genet Med,2010

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells;European Respiratory Journal;2021-08-19

2. Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract;Diagnostics;2021-01-25

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