نتایج جستجو برای: hermansky

تعداد نتایج: 390  

Journal: :Acta Chimica Slovenica 2021

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much 20 out 25 patients, variants explaining their phenotype were identified. The great majority (15/25) had TY...

Journal: :The Journal of biological chemistry 2003
Pei-Wen Chiang Naoki Oiso Rashi Gautam Tamio Suzuki Richard T Swank Richard A Spritz

Hermansky-Pudlak syndrome (HPS) is a genetic disease of lysosome, melanosome, and granule biogenesis. Mutations of six different loci have been associated with HPS in humans, the most frequent of which are mutations of the HPS1 and HPS4 genes. Here, we show that the HPS1 and HPS4 proteins are components of two novel protein complexes involved in biogenesis of melanosome and lysosome-related org...

Journal: :American Journal of Respiratory and Critical Care Medicine 2012

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