Associated Papers
A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).
Kahani SM et al.
Bmc Genomics, 2024
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
Boeckelmann D et al.
Cells, 2021
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
Yousaf S et al.
Pigment Cell & Melanoma Research, 2016
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Gallo V et al.
Frontiers in Immunology, 2016
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
Dotta L et al.
Orphanet Journal of Rare Diseases, 2013
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Wei AH et al.
Pigment Cell & Melanoma Research, 2013
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
Badolato R et al.
Blood, 2012
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Cullinane AR et al.
American Journal of Human Genetics, 2011
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