Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organell...

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Detalles Bibliográficos
Autores principales: Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J., O’Brien, Kevin J., Nicoli, Elena-Raluca, Brooks, Brian P., Huryn, Laryssa, Titus, Steven A., Adams, David R., Chen, Dong, Gahl, William A., Gochuico, Bernadette R., Malicdan, May Christine V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351877/
https://www.ncbi.nlm.nih.gov/pubmed/28296950
http://dx.doi.org/10.1371/journal.pone.0173682

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