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Functional characterization of alpha- mannosidosis associated sequence variants
(Master thesis; Mastergradsoppgave, 2008-12-24)
Alpha-mannosidosis is a rare autosomal recessive lysosomal-storage disorder resulting from deficiency of lysosomal alpha-mannosidase activity. The disease shows a wide range of clinical phenotypes caused by intracellular accumulation of mannose-containing oligosaccharides, which ultimately may lead to mental retardation, hearing loss, skeletal changes and immune deficiency. Lysosomal alpha-mannosidase ...