1. Huizing, Marjan, Malicdan, May C V, Wang, Jennifer A, Gahl, William A, Gochuico, Bernadette R. 2020. Hermansky-Pudlak syndrome: Mutation update. In Human mutation, 41, 543-580. doi:10.1002/humu.23968. https://pubmed.ncbi.nlm.nih.gov/31898847/
2. Marek-Yagel, Dina, Abudi-Sinreich, Shachar, Macarov, Michal, Malicdan, May Christine V, Anikster, Yair. 2022. Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene. In Frontiers in genetics, 13, 936064. doi:10.3389/fgene.2022.936064. https://pubmed.ncbi.nlm.nih.gov/36046236/
3. Manakhov, Andrey D, Aarakelyan, Nelli A, Lapteacru, Adela V, Trapezov, Oleg V, Rogaev, Evgeny I. 2024. Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene. In Animal genetics, 55, 788-792. doi:10.1111/age.13461. https://pubmed.ncbi.nlm.nih.gov/38956930/
4. Lecchi, Anna, La Marca, Silvia, Femia, Eti A, Peyvandi, Flora, Zieger, Barbara. 2019. Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3. In Platelets, 31, 960-963. doi:10.1080/09537104.2019.1704716. https://pubmed.ncbi.nlm.nih.gov/31880485/
5. Kiener, Sarah, Kehl, Alexandra, Loechel, Robert, Jagannathan, Vidhya, Leeb, Tosso. 2020. Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3. In Genes, 11, . doi:10.3390/genes11060636. https://pubmed.ncbi.nlm.nih.gov/32526956/
6. Boeckelmann, Doris, Wolter, Mira, Neubauer, Katharina, Ehl, Stephan, Zieger, Barbara. 2022. Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7). In Frontiers in pharmacology, 12, 786937. doi:10.3389/fphar.2021.786937. https://pubmed.ncbi.nlm.nih.gov/35126127/
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