Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database super(-)

Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database super(-)

Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder characterized by oculocutaneous albinism and prolonged bleeding due to abnormal vesicle trafficking to lysosomes and related organelles such as melanosomes and platelet dense granules. This HPS database (HPSD; http://liweilab.ge...

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Veröffentlicht in:Human mutation 2006-01, Vol.27 (5), p.402-407
Hauptverfasser: Li, Wei, He, Min, Zhou, Helin, Bourne, Jonathan W, Liang, Ping
Format: Artikel
Sprache:eng
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Zusammenfassung:Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder characterized by oculocutaneous albinism and prolonged bleeding due to abnormal vesicle trafficking to lysosomes and related organelles such as melanosomes and platelet dense granules. This HPS database (HPSD; http://liweilab.genetics.ac.cn/HPSD/
ISSN:1059-7794
DOI:10.1002/humu.20309