title: A Novel Splice Site Mutation inHPS1Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Feyzollah
authors.initials: F
authors.lastname: Hashemi-Gorji
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Vahid Reza
authors.initials: VR
authors.lastname: Yassaee
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Nasrin
authors.initials: N
authors.lastname: Alipour
authors.affiliation: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Miryounesi