• Albinism Database. International Albinism Center, University of Minnesota [WWW document]. URL
  • Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A. & Toro, J.R. (2001) Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genetics, 4, 376380.
  • Bailin, T., Oh, J., Feng, G.H., Fukai, K. & Spritz, R.A. (1997) Organization and nucleotide sequence of the human Hermansky–Pudlak syndrome (HPS) gene. Journal of Investigative Dermatology, 108, 923927.
  • Corral, J., Lozano, M.L., González-Conejero, R., Martinez, C., Iniesta, J.A., Rivera, J. & Vicente, V. (2000) A common polymorphism flanking the ATG initiator codon of GPIb alpha does not affect expression and is not a major risk factor for arterial thrombosis. Thrombosis and Haemostasis, 83, 2328.
  • Feng, L., Novak, E.K., Hartnell, L.M., Bonifacino, J.S., Collinson, L.M. & Swank, R.T. (2002) The Hermansky–Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood, 99, 16511658.
  • Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J. & Bernardini, I. (1998) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome). New England Journal of Medicine, 338, 12581264.
  • Holmsen, H. & Dangelmaier, C.A. (1989) Measurement of secretion of serotonin. In: Methods in Enzimology, Vol. 169 (ed. by J. Hawiger), pp. 205210. Academic Press, San Diego, CA, USA.
  • Horikawa, T., Araki, K., Fukai, K., Ueda, M., Ueda, T., Ito, S. & Ichihashi, M. (2000) Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes. British Journal of Dermatology, 143, 635640.
  • Huizing, M., Anikster, Y. & Gahl, W.A. (2000) Hermansky–Pudlak syndrome and related disorders of organelle formation. Traffic, 1, 823835.
  • Huizing, M., Anikster, Y. & Gahl, W.A. (2001) Hermansky–Pudlak syndrome and Chediak–Higashi syndrome: disorders of vesicle formation and trafficking. Thrombosis and Haemostasis, 86, 233245.
  • Jimbow, K., Park, J.S., Kato, F., Hirosaki, K., Toyofuku, K., Hua, C. & Yamashita, T. (2000) Assembly, target-signaling and intracellular transport of tyrosinase gene family proteins in the initial stage of melanosome biogenesis. Pigment Cell Research, 13, 222229.
  • King, R.A., Hearing, V.J., Creel, D.J. & Oetting, W.S. (1995) Albinism. In: The Metabolic Bases of Inherited Disease, 7th edn, Vol. 3 (ed. by C.R.Scriver, A.L. W.S.Beaudert, Sly & D.L.Valle), pp. 43534392. McGraw-Hill, New York.
  • Lozano, M.L., Rivera, J., González-Conejero, R., Moraleda, J.M. & Vicente, V. (1997) Loss of high-affinity thrombin receptors during platelet concentrate storage impairs the reactivity of platelets to thrombin. Transfusion, 37, 368375.
  • Novak, E.K., Gautam, R., Reddington, M., Collinson, L.M., Copeland, N.G., Jenkins, N.A., McGarry, M.P. & Swank, R.T. (2002) 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. Blood, 100, 128135.
  • Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J.P., Fong, C.-T., Green, J.S., Heon, E., Legius, E., Levin, A.V., Nieuwenhuis, H.K., Pinckers, A., Tamura, N., Whitheford, M.L., Yamasaki, H. & Spritz, R.A. (1998) Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. American Journal of Human Genetics, 62, 593598.
  • Oh, J., Liu, Z.-X., Feng, H.G., Raposo, G. & Spritz, R.A. (2000) The Hermansky–Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Human Molecular Genetics, 9, 375385.
  • Pujol-Moix, N., Hernandez, A., Escolar, G., Español, I., Martinez-Brotons, F. & Mateo, J. (2000) Platelet ultrastructural morphometry for diagnosis of partial d-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. Haematologica, 85, 619626.
  • Shotelersuk, V., Hazelwood, S., Larson, D., Iwata, F., Kaiser-Kupfer, M.I., Kuehl, E., Bernardini, I. & Gahl, W.A. (1998) Three new mutations in a gene causing Hermansky–Pudlak syndrome: clinical correlations. Molecular Genetics and Metabolism, 64, 99107.
  • Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E.K., Sviderskaya, E.V., Hill, S.P., Bennett, D.C., Levin, A.V., Nieuwenhuis, H.K., Fong, C.T., Castellan, C., Miterski, B., Swank, R.T. & Spritz, R.A. (2002) Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nature Genetics, 30, 321324.
  • Witkop, C.J., Krumwiede, M., Sedano, H. & White, J.G. (1978) Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky–Pudlak syndrome. American Journal of Hematology, 26, 305311.