Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)-Reference-Cited by-同舟云学术

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Published:2003-08-17 Issue:1 Volume:35 Page:84-89
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Li Wei,Zhang Qing,Oiso Naoki,Novak Edward K,Gautam Rashi,O'Brien Edward P,Tinsley Caroline L,Blake Derek J,Spritz Richard A,Copeland Neal G,Jenkins Nancy A,Amato Dominick,Roe Bruce A,Starcevic Marta,Dell'Angelica Esteban C,Elliott Rosemary W,Mishra Vishnu,Kingsmore Stephen F,Paylor Richard E,Swank Richard T

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1229.pdf

Reference30 articles.

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2. Spritz, R.A. Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast. Trends Genet. 15, 337–340 (1999).

3. Huizing, M., Anikster, Y. & Gahl, W.A. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb. Haemost. 86, 233–245 (2001).

4. Novak, E.K. et al. 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, 128–135 (2002).

5. Suzuki, T. et al. The mouse organellar biogenesis mutant buff (bf) results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation (car). Proc. Natl. Acad. Sci. USA 100, 1146–1150 (2003).

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