Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation-Reference-Cited by-同舟云学术

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Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation

Published:2013-12 Issue:6 Volume:12 Page:821-825
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Sorio Claudio,Angiari Chiara,Johansson Jan,Verzè Genny,Ettorre Michele,Buffelli Mario,Castellani Carlo,Assael Baroukh Maurice,Melotti Paola

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference19 articles.

1. Classification of cystic fibrosis and related disorders;J Cyst Fibros,2002

2. Recommendations for the classification of diseases as CFTR-related disorders;Bombieri;J Cyst Fibros,2011

3. Cystic fibrosis: terminology and diagnostic algorithms;De Boeck;Thorax,2006

4. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report;Farrell;J Pediatr,2008

5. Modifier genes in Mendelian disorders: the example of cystic fibrosis;Cutting;Ann N Y Acad Sci,2010

Cited by 6 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. Revisiting the Role of Leukocytes in Cystic Fibrosis;Cells;2021-12-01

2. Türk hastalarda Fenilalanin Hidroksilaz gen mutasyonlarının dizileme ve ARMS teknikleri ile incelenmesi;Cukurova Medical Journal (Çukurova Üniversitesi Tıp Fakültesi Dergisi);2016-12-31

3. Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles;Journal of Medical Genetics;2016-10-13

4. A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies;Journal of Human Genetics;2016-04-21

5. Fibrosis quística atípica: la importancia de un diagnóstico precoz;Medicina General y de Familia;2015-10

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