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A divalent interaction between HPS1 and HPS4 is required for the formation of the Biogenesis of Lysosome-related Organelle Complex -3 (BLOC-3)
Hermansky-Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism, a bleeding tendency, and sporadic pulmonary fibrosis, granulomatous colitis or infections. Nine HPS-causing genes have been identified in humans. HPS-1 is the most severe subtyp...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3556189/ https://ncbi.nlm.nih.gov/pubmed/23103514 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbamcr.2012.10.019 |
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