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Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.

作者信息

Zhou Min, Gradstein Libe, Gonzales John A, Tsilou Ekaterini T, Gahl William A, Chan Chi-Chao

机构信息

National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

出版信息

Arch Ophthalmol. 2006 Jul;124(7):1048-51. doi: 10.1001/archopht.124.7.1048.

Abstract
摘要

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Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1.
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Molecular defects that affect platelet dense granules.
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Hermansky-Pudlak syndrome: vesicle formation from yeast to man.
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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
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