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

نویسندگان

  • Mohammad Miryounesi Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Nasrin Alipour Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Soudeh Ghafouri-Fard Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Vahid Reza Yassaee Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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عنوان ژورنال

دوره 5  شماره None

صفحات  192- 195

تاریخ انتشار 2016-07

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