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• W2132336798 abstract "The Hermansky–Pudlak syndrome (HPS) is a rare genetically heterogeneous autosomal recessive disorder, characterized by tyrosinase-positive oculocutaneous albinism, platelet dysfunction and lysosomal ceroid lipofuscin storage. This is caused by defects in lysosome-related organelles. In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel mutation of a patient with HPS type 5 are described here." @default.
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• W2132336798 date "2008-04-01" @default.
• W2132336798 modified "2023-10-05" @default.
• W2132336798 title "A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5" @default.
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• W2132336798 doi "https://doi.org/10.1111/j.1600-0609.2007.01024.x" @default.
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