| 1 | DTNBP1, HPS7
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| Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
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| Lowe GC, Sánchez Guiu I, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson SP, Morgan NV; UK GAPP collaborative.
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| Thromb Haemost. Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31 2013
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| 2 | HPS, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
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| BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
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| Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS.
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| Mol Biol Cell 18(3):768-80. Epub 2006 Dec 20.
2007
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| 3 | DTNBP1, HPS7, SNAPIN
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| Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.
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| Talbot K, Cho DS, Ong WY, Benson MA, Han LY, Kazi HA, Kamins J, Hahn CG, Blake DJ, Arnold SE.
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| Hum Mol Genet 15(20):3041-54. Epub 2006 Sep 15. 2006
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| 4 | HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
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| Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
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| Wei ML.
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| Pigment Cell Res 19(1):19-42. Review.PMID: 16420244 2006
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| 5 | HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8
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| A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
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| Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.
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| Hum Mutat 27(11):1158.PMID: 17041891 2006
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| 6 | DTNBP1, HPS7
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| Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
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| Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT.
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| Nat Genet 35(1):84-9. Epub 2003 Aug 17. 2003
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