Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6-Reference-Cited by-同舟云学术

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

Published:2003-01-27 Issue:2 Volume:33 Page:145-153
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Zhang Qing,Zhao Baohui,Li Wei,Oiso Naoki,Novak Edward K.,Rusiniak Michael E.,Gautam Rashi,Chintala Sreenivasulu,O'Brien Edward P.,Zhang Yuke,Roe Bruce A.,Elliott Rosemary W.,Eicher Eva M.,Liang Ping,Kratz Christian,Legius Eric,Spritz Richard A.,O'Sullivan T. Norene,Copeland Neal G.,Jenkins Nancy A.,Swank Richard T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1087z.pdf

Reference42 articles.

1. 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).

2. Spritz, R.A. Multi-organellar disorders of pigmentation: Tied up in traffic. Clin. Genet. 55, 309–317 (1999).

3. Gardner, J.M. et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome (HPS). Proc. Natl. Acad. Sci. USA 94, 9238–9243 (1997).

4. Feng, G.H., Bailin, T., Oh, J. & Spritz, R.A. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum. Molec. Genet. 6, 793–797 (1997).

5. Oh, J. et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat. Genet. 14, 300–306 (1996).

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