Article
amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.
Human mutation - 1 Jun 2015
Riise Stensland Hilde Monica Frostad, Frantzen Gabrio, Kuokkanen Elina, Buvang Elisabeth Kjeldsen, Klenow Helle Bagterp, Heikinheimo Pirkko, Malm Dag, Nilssen Øivind
Abstract excerpt
α-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the MAN2B1 gene, encoding lysosomal α-mannosidase. The disorder is characterized by a range of clinical phenotypes of which the major manifestations are mental impairment, hearing impairment, skeletal changes, and immunodeficiency. Here, we report an α-mannosidosis mutation database, amamutdb.no, which has been constructed...
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