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Hermansky-Pudlak Syndrome in Two African-American Brothers
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis. There are eight different subtypes of HPS, each due to mutations in one of eight different...
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| Main Authors: | , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2009
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2788939/ https://ncbi.nlm.nih.gov/pubmed/19334085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32757 |
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