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Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5 |
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| Authors: | Huizing Marjan Hess Richard Dorward Heidi Claassen David A Helip-Wooley Amanda Kleta Robert Kaiser-Kupfer Muriel I White James G Gahl William A |
| Institution: | Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA. mhuizing@mail.nih.gov |
| Abstract: | |
| Keywords: | gene-dosage polymerase chain reaction (PCR) Hermansky–Pudlak syndrome (HPS) lysosome-related organelle melanosome organelle biogenesis platelet dense granule |
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