Document Detail


A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
MedLine Citation:
PMID:  18182080     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Lindy-Anne Korswagen; Marjan Huizing; Suat Simsek; Jeroen J W M Janssen; Sonja Zweegman
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural     Date:  2007-12-21
Journal Detail:
Title:  European journal of haematology     Volume:  80     ISSN:  1600-0609     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-03-07     Completed Date:  2008-03-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  356-60     Citation Subset:  IM    
Affiliation:
Department of Haematology, VU University Medical Centre, Amsterdam, The Netherlands. lindyanne_k@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Carrier Proteins / genetics*
Female
Hermanski-Pudlak Syndrome / classification,  genetics*
Humans
Mutation / genetics*
Turkey
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/HPS5 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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