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Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.
Hermansky-Pudlak syndrome: the importance of molecular subtyping.
Thielen N, Huizing M, Krabbe JG, White JG, Jansen TJ, Merle PA, Gahl WA, Zweegman S. Thielen N, et al. J Thromb Haemost. 2010 Jul;8(7):1643-5. doi: 10.1111/j.1538-7836.2010.03898.x. Epub 2010 Apr 30. J Thromb Haemost. 2010. PMID: 20456745 Free PMC article. No abstract available.