RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9-Reference-Cited by-同舟云学术

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

Published:2011-06 Issue:6 Volume:88 Page:778-787
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Cullinane Andrew R.,Curry James A.,Carmona-Rivera Carmelo,Summers C. Gail,Ciccone Carla,Cardillo Nicholas D.,Dorward Heidi,Hess Richard A.,White James G.,Adams David,Huizing Marjan,Gahl William A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics;Huizing;Annu. Rev. Genomics Hum. Genet.,2008

2. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles;Oh;Nat. Genet.,1996

3. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor;Dell'Angelica;Mol. Cell,1999

4. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nat. Genet.,2001

5. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene;Suzuki;Nat. Genet.,2002

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