Associated Papers
Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.
Yong X et al.
Nature Communications, 2025
40140412 (PubMed )
Supplement: 41467_2025_58235_MOESM1_ESM.pdf
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc4.xlsx › ST4.1
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
Khan AO et al.
Clinical Genetics, 2016
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