A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Ghafouri-Fard, Soudeh; Hashemi-Gorji, Feyzollah; Yassaee, Vahid Reza; Alipour, Nasrin; Miryounesi, Mohammad

doi:10.22088/acadpub.BUMS.5.3.192

Volume 5, Issue 3 (Int J Mol Cell Med 2016) Int J Mol Cell Med 2016, 5(3): 192-195 | Back to browse issues page

‎ 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

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 Miryounesi³

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

Abstract: (8157 Views)

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Keywords: Hermansky-Pudlak syndrome, HPS1, albinism

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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