Article
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.
Human molecular genetics - 1 Jul 2011
Kuokkanen Elina, Riise Stensland Hilde Monica Frostad, Smith Wesley, Kjeldsen Buvang Elisabeth, Van Nguyen Lam, Nilssen Øivind, Heikinheimo Pirkko
Abstract excerpt
α-Mannosidosis is a lysosomal storage disorder caused by mutations in the MAN2B1 gene. The clinical presentation of α-mannosidosis is variable, but typically includes mental retardation, skeletal abnormalities and immune deficiency. In order to understand the molecular aetiology of α-mannosidosis, we describe here the subcellular localization and intracellular processing of 35 MAN2B1 variants, including 29 novel...
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