BLOC1S5

Publications

Pennamen P et al.  BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Genet Med. 2021 Mar;23(3):479-487. PMID: 33100333.

Zhong Z et al. A novel BLOC1S5 -related HPS-11 patient and zebrafish with bloc1s5 disruption. Pigment Cell Melanoma Res. 2021 Nov;34(6):1112-1119. PMID: 34058075.

Boeckelmann D et al. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. Cells. 2021 Oct 1;10(10):2630. PMID: 34685610.