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There are 6122 results for: content related to: A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky–Pudlak Syndrome type 8

  1. You have free access to this content
    Hermansky–Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

    Pigment Cell & Melanoma Research

    Volume 26, Issue 2, March 2013, Pages: 176–192, Ai-Hua Wei and Wei Li

    Article first published online : 31 DEC 2012, DOI: 10.1111/pcmr.12051

  2. Biogenesis of Melanosomes

    The Pigmentary System: Physiology and Pathophysiology, Second Edition

    Raymond E. Boissy, Marjan Huizing, William A. Gahl, Pages: 155–170, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch7

  3. Biogenesis of Melanosomes

    Melanins and Melanosomes: Biosynthesis, Biogenesis, Physiological, and Pathological Functions

    Cédric Delevoye, Francesca Giordano, Michael S. Marks, Graça Raposo, Pages: 247–294, 2011

    Published Online : 27 JUL 2011, DOI: 10.1002/9783527636150.ch9

  4. ‘Albinism’ and the Failure of Normal Melanosome Maturation

    The Colors of Mice: A Model Genetic Network

    M. Lynn Lamoreux, Véronique Delmas, Lionel Larue, Dorothy C. Bennett, Pages: 132–176, 2010

    Published Online : 6 MAY 2010, DOI: 10.1002/9781444319651.ch4

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    Hypopigmentation in Hermansky–Pudlak syndrome

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 325–329, Ai-Hua Wei, Xin He and Wei Li

    Article first published online : 14 MAY 2013, DOI: 10.1111/1346-8138.12025

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    ESCRT-I Function is Required for Tyrp1 Transport from Early Endosomes to the Melanosome Limiting Membrane

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    Volume 10, Issue 9, September 2009, Pages: 1318–1336, Steven T. Truschel, Sabrina Simoes, Subba Rao Gangi Setty, Dawn C. Harper, Danièle Tenza, Penelope C. Thomas, Kathryn E. Herman, Sara D. Sackett, David C. Cowan, Alexander C. Theos, Graça Raposo and Michael S. Marks

    Article first published online : 9 JUN 2009, DOI: 10.1111/j.1600-0854.2009.00955.x

  7. Genetic Hypomelanoses: Generalized Hypopigmentation

    The Pigmentary System: Physiology and Pathophysiology, Second Edition

    Richard A. King, William S. Oetting, Philippe Bahadoran, Jean-Paul Ortonne, Anne-Sophie Gadenne, James J. Nordlund, Marnie D. Titsch, Allan D. Mineroff, Jean L. Bolognia, Tanusin Ploysangam, Pages: 599–635, 2007

    Published Online : 26 OCT 2007, DOI: 10.1002/9780470987100.ch31

  8. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

    Human Mutation

    Volume 13, Issue 2, 1999, Pages: 99–115, William S. Oetting and Richard A. King

    Article first published online : 6 APR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C

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    Interaction of Hermansky-Pudlak Syndrome Genes in the Regulation of Lysosome-Related Organelles

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    Volume 7, Issue 7, July 2006, Pages: 779–792, Rashi Gautam, Edward K. Novak, Jian Tan, Kazumasa Wakamatsu, Shosuke Ito and Richard T. Swank

    Article first published online : 5 MAY 2006, DOI: 10.1111/j.1600-0854.2006.00431.x

  10. Introduction to the Pigmentary System

    The Colors of Mice: A Model Genetic Network

    M. Lynn Lamoreux, Véronique Delmas, Lionel Larue, Dorothy C. Bennett, Pages: 3–47, 2010

    Published Online : 6 MAY 2010, DOI: 10.1002/9781444319651.ch1

  11. Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome

    Management of Genetic Syndromes

    Richard A. King, C. Gail Summers, Pages: 53–68, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch5

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    The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances

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    Volume 6, Issue 7, July 2005, Pages: 525–533, Santiago M. Di Pietro and Esteban C. Dell'Angelica

    Article first published online : 21 MAY 2005, DOI: 10.1111/j.1600-0854.2005.00299.x

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    Tyrp1 and Oculocutaneous Albinism Type 3

    Pigment Cell Research

    Volume 14, Issue 6, December 2001, Pages: 437–444, Rangaprasad Sarangarajan and Raymond E. Boissy

    Article first published online : 21 DEC 2001, DOI: 10.1034/j.1600-0749.2001.140603.x

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    Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

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    Volume 5, Issue 9, September 2004, Pages: 711–722, Marjan Huizing, Richard Hess, Heidi Dorward, David A. Claassen, Amanda Helip-Wooley, Robert Kleta, Muriel I. Kaiser-Kupfer, James G. White and William A. Gahl

    Article first published online : 6 JUL 2004, DOI: 10.1111/j.1600-0854.2004.00208.x

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    The Dark Side of Lysosome-Related Organelles: Specialization of the Endocytic Pathway for Melanosome Biogenesis

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    Volume 3, Issue 4, April 2002, Pages: 237–248, Graça Raposo and Michael S. Marks

    Article first published online : 3 APR 2002, DOI: 10.1034/j.1600-0854.2002.030401.x

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    References

    The Colors of Mice: A Model Genetic Network

    M. Lynn Lamoreux, Véronique Delmas, Lionel Larue, Dorothy C. Bennett, Pages: 243–285, 2010

    Published Online : 6 MAY 2010, DOI: 10.1002/9781444319651.refs

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    The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles

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    Volume 13, Issue 8, August 2012, Pages: 1160–1169, Qing Yang, Xin He, Lin Yang, Zhiyong Zhou, Andrew R. Cullinane, Aihua Wei, Zhe Zhang, Zhenhua Hao, Aili Zhang, Min He, Yaqin Feng, Xiang Gao, William A. Gahl, Marjan Huizing and Wei Li

    Article first published online : 28 MAY 2012, DOI: 10.1111/j.1600-0854.2012.01375.x

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    Index

    The Colors of Mice: A Model Genetic Network

    M. Lynn Lamoreux, Véronique Delmas, Lionel Larue, Dorothy C. Bennett, Pages: 286–297, 2010

    Published Online : 6 MAY 2010, DOI: 10.1002/9781444319651.index

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    Molecular determinants of platelet delta storage pool deficiencies: an update

    British Journal of Haematology

    Volume 160, Issue 1, January 2013, Pages: 5–11, Julien Masliah-Planchon, Luc Darnige and Sylvia Bellucci

    Article first published online : 1 OCT 2012, DOI: 10.1111/bjh.12064

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    Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation

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    Volume 1, Issue 11, November 2000, Pages: 823–835, Marjan Huizing, Yair Anikster and William A. Gahl

    Article first published online : 3 SEP 2008, DOI: 10.1034/j.1600-0854.2000.011103.x