نتایج جستجو برای: pudlak syndrome

تعداد نتایج: 621943  

Journal: :American Journal of Physiology-Lung Cellular and Molecular Physiology 2016

Journal: :Development 2008
Helia B Schonthaler Valerie C Fleisch Oliver Biehlmaier Yuri Makhankov Oliver Rinner Ronja Bahadori Robert Geisler Heinz Schwarz Stephan C F Neuhauss Ralf Dahm

The trafficking of intracellular vesicles is essential for a number of cellular processes and defects in this process have been implicated in a wide range of human diseases. We identify the zebrafish mutant lbk as a novel model for such disorders. lbk displays hypopigmentation of skin melanocytes and the retinal pigment epithelium (RPE), an absence of iridophore reflections, defects in internal...

Journal: :The British journal of ophthalmology 1990
I Russell-Eggitt A Kriss D S Taylor

Flash visual evoked potentials (F. VEPs) and electroretinograms (ERGs) were recorded in a total of 20 young children with albinism (age range 5 months to 11 years, mean 4 years). All recordings were made without sedation. There were 13 oculocutaneous cases (one with Hermansky-Pudlak syndrome) and seven ocular albinos. Monocular flash stimulation commonly elicited an asymmetrical occipital VEP d...

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