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

Document Type : Letter to Editor

Authors
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