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Journal Abstract Search

299 related items for PubMed ID: 15941405

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  • 7. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
    Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC.
    Traffic; 2007 Feb; 8(2):154-68. PubMed ID: 17156100
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  • 9. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
    Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR.
    Nat Genet; 2001 Aug; 28(4):376-80. PubMed ID: 11455388
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  • 11. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
    Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC.
    Traffic; 2004 Apr; 5(4):276-83. PubMed ID: 15030569
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  • 14. Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.
    Gautam R, Novak EK, Tan J, Wakamatsu K, Ito S, Swank RT.
    Traffic; 2006 Jul; 7(7):779-92. PubMed ID: 16787394
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  • 15. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
    Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA.
    Traffic; 2004 Sep; 5(9):711-22. PubMed ID: 15296495
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  • 16. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
    Huizing M, Anikster Y, Gahl WA.
    Thromb Haemost; 2001 Jul; 86(1):233-45. PubMed ID: 11487012
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  • 18. Genetic variants associated with Hermansky-Pudlak syndrome.
    Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR.
    Platelets; 2020 May 18; 31(4):544-547. PubMed ID: 32436471
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  • 19. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
    Sandrock K, Bartsch I, Rombach N, Schmidt K, Nakamura L, Hainmann I, Busse A, Zieger B.
    Klin Padiatr; 2010 May 18; 222(3):168-74. PubMed ID: 20514622
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  • 20. Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.
    Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA.
    Clin Genet; 2005 Jul 18; 68(1):23-30. PubMed ID: 15952982
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