A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.

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.

journal_name

Eur J Haematol

authors

Korswagen LA,Huizing M,Simsek S,Janssen JJ,Zweegman S

doi

10.1111/j.1600-0609.2007.01024.x

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

356-60

issue

4

eissn

0902-4441

issn

1600-0609

pii

EJH1024

journal_volume

80

pub_type

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