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 germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
Morgan NV et al.
American Journal of Human Genetics, 2006
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