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Your search keyword '"Janssen, Jeroen J. W. M."' showing total 1 results
Start Over Author "Janssen, Jeroen J. W. M." Region turkey
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1. A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5.

Author

Korswagen, Lindy-Anne, Huizing, Marjan, Simsek, Suat, Janssen, Jeroen J. W. M., and Zweegman, Sonja

Subjects
ORGANELLES, LYSOSOMES, TYROSINE, GENETIC mutation, BLOOD platelets
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. [ABSTRACT FROM AUTHOR]

Published
2008
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