Hermansky-Pudlak syndrome: the importance of molecular subtyping
β Scribed by N. THIELEN; M. HUIZING; J. G. KRABBE; J. G. WHITE; T. J. JANSEN; P. A. MERLE; W. A. GAHL; S. ZWEEGMAN
- Book ID
- 109154355
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 244 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1538-7933
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Cell cultures of keratinocytes, established from four Hermansky-Pndlak syndrome (HPS) homozygotes yielded low membrane-associated thioredoxin reductase activities compared with normal healthy adult controls. This low activity has been shown to be caused by a special sensitivity of the enzyme to calc
## Communicated by A. Jamie Cuticchia 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. Thi