Article
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.
Human molecular genetics - 1 Jan 1998
Alkhayat A H, Kraemer S A, Leipprandt J R, Macek M, Kleijer W J, Friderici K H
Abstract excerpt
Human beta-mannosidosis is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme beta-mannosidase. Unlike the severe clinical manifestation of the disease in ruminants, in which it leads to neonatal death, the human disease phenotype is generally milder. In additi...
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