Associated Papers
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Zaman Q et al.
Genes, 2023
36672886 (PubMed )
Supplement: genes-14-00145-s001.zip › genes-2104317-supplementary.pdf
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei A et al.
Pigment Cell & Melanoma Research, 2019
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Suzuki T et al.
Nature Genetics, 2002
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