Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6

PURPOSE: In the last decade, Hermansky-Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to study the biogenesis of lysosome-related organelles (LROs). Of the eight human HPS subtypes, only subtypes 1 through 5 are well described. Here, we carefully characterize the HPS...

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Détails bibliographiques
Auteurs principaux: Huizing, Marjan, Pederson, Ben, Hess, Richard A, Griffin, Ashley, Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, O’Brien, Kevin J, Golas, Gretchen, Tsilou, Ekaterini, White, James G, Gahl, William A
Format: Artigo
Langue:Inglês
Publié: 2009
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500784/
https://ncbi.nlm.nih.gov/pubmed/19843503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.065961
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