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BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor
Hermansky-Pudlak syndrome (HPS) is a human disease characterized by partial loss of pigmentation and impaired blood clotting [1–3]. These symptoms are caused by defects in the biogenesis of melanosomes and platelet dense granules, often referred to as lysosome-related organelles [2]. Genes mutated i...
Autores principales: | Gerondopoulos, Andreas, Langemeyer, Lars, Liang, Jin-Rui, Linford, Andrea, Barr, Francis A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cell Press
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502862/ https://www.ncbi.nlm.nih.gov/pubmed/23084991 http://dx.doi.org/10.1016/j.cub.2012.09.020 |
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