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A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
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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.
2- Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
3- Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. , mmiryounesi123@gmail.com |
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Abstract: (7220 Views) |
| This article has no abstract. |
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| Keywords: Hermansky-Pudlak syndrome, HPS1, albinism |
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Full-Text [PDF 167 kb]
(3121 Downloads)
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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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