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Publication Name World Journal of Clinical Cases
Manuscript ID 10604
Country Iran
Received
2014-04-09 10:03
Peer-Review Started
2014-04-09 19:17
To Make the First Decision
2014-04-28 14:25
Return for Revision
2014-05-01 12:02
Revised
2014-05-11 23:09
Second Decision
2014-06-11 14:13
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2014-06-11 14:32
Articles in Press
2014-06-11 15:04
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2014-08-01 08:29
Publish the Manuscript Online
2014-09-03 20:56
ISSN 2307-8960 (online)
Open Access
Copyright
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics & Heredity
Manuscript Type Case Report
Article Title Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
Manuscript Source Invited Manuscript
All Author List Shirin Farjadian, Mozhgan Moghtaderi, Roberta Zuntini and Simona Ferrari
Funding Agency and Grant Number
Funding Agency Grant Number
Shiraz University of Medical Sciences, Shiraz, Iran and Bologna University, Bologna, Italy
Corresponding Author Shirin Farjadian, PhD, Department of Immunology, Allergy Research Center, Shiraz University of Medical Sciences, Zand Avenue, 71348-45794 Shiraz, Iran. farjadsh@sums.ac.ir
Key Words Cystic fibrosis; Transmembrane conductance regulatory gene; Homozygous deletion
Core Tip Genetic analysis of the transmembrane conductance regulatory (CFTR) gene is helpful to characterize patients with cystic fibrosis, but sequencing and multiplex ligation-dependent probe amplification-based testing are only done to diagnose rare or unknown variants. Here we report a 16-year-old boy, the son of consanguineous healthy parents, who lacked both the normal and mutant forms of the ?F508 alleles in initial molecular tests. Further analysis disclosed a rare large homozygous CFTR gene deletion in this patient.
Publish Date 2014-09-03 20:56
Citation Farjadian S, Moghtaderi M, Zuntini R, Ferrari S. Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis. World J Clin Cases 2014; 2(8): 395-397
URL http://www.wjgnet.com/2307-8960/full/v2/i8/395.htm
DOI http://dx.doi.org/10.12998/wjcc.v2.i8.395
Full Article (PDF) WJCC-2-395.pdf
Full Article (Word) WJCC-2-395.doc
Manuscript File 10604-Review.doc
Answering Reviewers 10604-Answering reviewers.pdf
Copyright License Agreement 10604-Copyright assignment.pdf
Peer-review Report 10604-Peer review(s).pdf
Scientific Misconduct Check 10604-CrossCheck.jpg
Scientific Editor Work List 10604-Scientific editor work list.pdf