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Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Zhang Q, et al. Among authors: zhang y. Nat Genet. 2003 Feb;33(2):145-53. doi: 10.1038/ng1087. Epub 2003 Jan 27. Nat Genet. 2003. PMID: 12548288
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.
Wilson SM, Yip R, Swing DA, O'Sullivan TN, Zhang Y, Novak EK, Swank RT, Russell LB, Copeland NG, Jenkins NA. Wilson SM, et al. Among authors: zhang y. Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):7933-8. doi: 10.1073/pnas.140212797. Proc Natl Acad Sci U S A. 2000. PMID: 10859366 Free PMC article.
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