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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: le l. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
Melanosome Biogenesis in the Pigmentation of Mammalian Skin.
Le L, Sirés-Campos J, Raposo G, Delevoye C, Marks MS. Le L, et al. Integr Comp Biol. 2021 Oct 14;61(4):1517-1545. doi: 10.1093/icb/icab078. Integr Comp Biol. 2021. PMID: 34021746 Free PMC article. Review.
1,516 results