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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Gerondopoulos, Andreas, Langemeyer, Lars, Liang, Jin-Rui, Linford, Andrea, Barr, Francis A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Cell Press 2012
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3502862/
https://ncbi.nlm.nih.gov/pubmed/23084991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cub.2012.09.020
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