Article
Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
Molecular genetics and metabolism - 1 Dec 2006
Gort Laura, Duque Joana, Fabeiro José M, Zulaica Ander, Coll Maria Josep, Chabás Amparo
Abstract excerpt
beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase. Thirteen families with cases of beta-mannosidosis have been described including one case previously reported by our group. We present clinical and biochemical data in a new adult case, and the molecular analyses in both this new case and the one previously reported. We detected four novel mutations: p.R182W, p.G392E,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.