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Articles Published Processes
9/25/2017 8:56:57 AM | Browse: 1354 | Download: 2263
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Received |
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2017-05-04 10:16 |
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Peer-Review Started |
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2017-05-05 09:14 |
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First Decision by Editorial Office Director |
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Return for Revision |
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2017-06-07 00:10 |
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Revised |
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2017-06-16 11:06 |
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Publication Fee Transferred |
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2017-08-28 03:54 |
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Second Decision by Editor |
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2017-07-05 23:54 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2017-07-12 06:22 |
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Articles in Press |
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2017-07-12 06:22 |
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Edit the Manuscript by Language Editor |
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2017-09-04 16:29 |
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Typeset the Manuscript |
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2017-09-14 10:03 |
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Publish the Manuscript Online |
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2017-09-25 08:56 |
| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open-Access article which was selected by an in –house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) License, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| 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 |
Observational Study |
| Article Title |
Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Kassem Barada, Aline El Haddad, Meghri Katerji, Mustapha Jomaa and Julnar Usta |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Medical Practice Plan |
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| University Research Board |
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| Corresponding Author |
Julnar Usta, PhD, Professor, Department of Biochemistry and Molecular Genetics, American University of Beirut, Riad el Solh, Beirut 110236, Lebanon. justa@aub.edu.lb |
| Key Words |
Wilson Disease; Cu-metabolism; Phenotype; Genotype; ATP7B; Hepatic manifestations |
| Core Tip |
We report on the genotype-phenotype of 36 Lebanese patients with Wilson’s disease from 13 different families. The majority were homozygous for disease-causing mutations. The most common mutation worldwide, His1069Trp, was absent in our patients. The ATP hinge region may comprise a hot spot for mutations, as it was detected in 4 families. Hepatic phenotypes were predominant in both symptomatic and asymptomatic patients. Neurologic phenotypes were rare. Compared to findings reported in regional Arab and non-European countries, our results do not support a founder effect. Mutations are scattered over 17 exons, with no common or frequent mutation characterizing the region. |
| Publish Date |
2017-09-25 08:56 |
| Citation |
Barada K, El Haddad A, Katerji M, Jomaa M, Usta J. Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance. World J Gastroenterol 2017; 23(36): 6715-6725 |
| URL |
http://www.wjgnet.com/1007-9327/full/v23/i36/6715.htm |
| DOI |
http://dx.doi.org/10.3748/wjg.v23.i36.6715 |
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