[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis-Reference-Cited by-同舟云学术

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[R74W;R1070W;D1270N]: A new complex allele responsible for cystic fibrosis

Published:2010-12 Issue:6 Volume:9 Page:447-449
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

de Prada Merino Ana,Bütschi Florence Niel,Bouchardy Isabelle,Beckmann Jacques S.,Morris Michael A.,Hafen Gaudenz M.,Fellmann Florence

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference17 articles.

1. http://www.genet.sickkids.on.ca/cftr

2. http://www.who.int/genomics/publications/en

3. http://www.hgvs.org/mutnomen

4. Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples;Strom;Genet Med,2002

5. A mutation in CFTR produces different phenotypes depending on chromosomal background;Kiesewetter;Nat Genet,1993

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. CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24;International Journal of Molecular Sciences;2023-03-08

2. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29

3. Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping;Fertility and Sterility;2020-09

4. Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature;Global Journal of Rare Diseases;2020-08-18

5. Cystic fibrosis on the African continent;Genetics in Medicine;2016-07

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