Associated Papers
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
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pennamen P et al.
Pigment Cell & Melanoma Research, 2021
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
Cullinane AR et al.
Pigment Cell & Melanoma Research, 2012
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