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:: Volume 5, Number 3 (Int J Mol Cell Med 2016) ::
Int J Mol Cell Med 2016, 5(3): 192-195 Back to browse issues page
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
Soudeh Ghafouri-Fard1, Feyzollah Hashemi-Gorji2, Vahid Reza Yassaee2, Nasrin Alipour2, Mohammad Miryounesi *3
1- Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2- Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
3- Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. , mmiryounesi123@gmail.com
Abstract:   (1622 Views)
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Keywords: Hermansky-Pudlak syndrome, HPS1, albinism
Full-Text [PDF 167 kb]   (783 Downloads)    
Type of Study: Letters to the editor | Subject: Genetics & Disease
Received: 2016/05/9 | Accepted: 2016/06/11 | Published: 2016/06/13
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DOI: 10.22088/acadpub.BUMS.5.3.192


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Ghafouri-Fard S, Hashemi-Gorji F, Yassaee V R, Alipour N, Miryounesi M. A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. Int J Mol Cell Med. 2016; 5 (3) :192-195
URL: http://ijmcmed.org/article-1-517-en.html
Volume 5, Number 3 (Int J Mol Cell Med 2016) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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