Identification of a Novel Mutation in HPS6 in a Patient with Hemophilia B and Oculocutaneous Albinism

PURPOSE: Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel...

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發表在:Mol Genet Metab
Main Authors: O’Brien, Kevin J., Lozier, Jay, Cullinane, Andrew R., Osorio, Brigitte, Nghiem, Khanh, Speransky, Vladislav, Zein, Wadih M., Mullikin, James C., Neff, Anne T., Simon, Karen L., Malicdan, May Christine V., Gahl, William A., Young, Lisa R., Gochuico, Bernadette R.
格式: Artigo
語言:Inglês
出版: 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5083180/
https://ncbi.nlm.nih.gov/pubmed/27641950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.08.009
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