Article
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
Human molecular genetics - 1 May 1997
Nilssen O, Berg T, Riise H M, Ramachandran U, Evjen G, Hansen G M, Malm D, Tranebjaerg L, Tollersrud O K
Abstract excerpt
a-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage disorder resulting from deficient activity of lysosomal alpha-mannosidase (LAMAN) (EC 3.2.1.24). The disease is characterized by massive intracellular accumulation of mannose-rich oligosaccharides with resulting mental retardation, hearing loss, immune deficiency and skeletal changes. We report here the purification and characterization of...
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