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A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9 |
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| Authors: | 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 |
| Affiliation: | 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;2Departments of Ophthalmology and Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA;3Department of Laboratory Medicine, University of Minnesota, Minneapolis, MN 55455, USA;4Intramural Office of Rare Diseases Research, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA |
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