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Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis
Humans with Hermansky-Pudlak Syndrome (HPS) or ocular albinism (OA1) display abnormal aspects of organelle biogenesis. The multigenic disorder HPS displays broad defects in biogenesis of lysosome-related organelles including melanosomes, platelet dense granules, and lysosomes. A phenotype of ocular...
Autores principales: | Rachel, Rivka A., Nagashima, Kunio, O'Sullivan, T. Norene, Frost, Laura S., Stefano, Frank P., Marigo, Valeria, Boesze-Battaglia, Kathleen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439427/ https://www.ncbi.nlm.nih.gov/pubmed/22984402 http://dx.doi.org/10.1371/journal.pone.0042446 |
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