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A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
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Hermansky-pudlak syndrome: report of a case and review of the literature.
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Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.
AJR Am J Roentgenol. 2002 Oct;179(4):887-92. doi: 10.2214/ajr.179.4.1790887.
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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
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Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation.
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Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature.
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The Hermansky-Pudlak syndrome: radiographic features.
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