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 Executive 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
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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