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  1. 1.   Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
  2. Li, W.; Zhang, Q.; Oiso, N.; Novak, E. K.; Gautam, R.; O'Brien, E. P.; Tinsley, C. L.; Blake, D. J.; Spritz, R. A.; Copeland, N. G.; Jenkins, N. A.; Amato, D.; Roe, B. A.; Starcevic, M.; Dell'Angelica, E. C.; Elliott, R. W.; Mishra, V.; Kingsmore, S. F.; Paylor, R. E.; Swank, R. T.
  3. Nature Genetics. 2003 35(1): 84-89.
  1. 2.   Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
  2. Zhang, Q.; Zhao, B. H.; Li, W.; Oiso, N.; Novak, E. K.; Rusiniak, M. E.; Gautam, R.; Chintala, S.; O'Brien, E. P.; Zhang, Y.; Roe, B. A.; Elliott, R. W.; Eicher, E. M.; Liang, P.; Kratz, C.; Legius, E.; Spritz, R. A.; O'Sullivan, T. N.; Copeland, N. G.; Jenkins, N. A.; Swank, R. T.
  3. Nature Genetics. 2003 33(2): 145-153.
  1. 3.   The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background
  2. Novak, E. K.; Gautam, R.; Reddington, M.; Collinson, L. M.; Copeland, N. G.; Jenkins, N. A.; McGarry, M. P.; Swank, R. T.
  3. Blood. 2002 100(1): 128-135.
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