Article
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Molecular genetics and metabolism - 1 Jan 2000
Garrido Elena, Chabás Amparo, Coll Maria Josep, Blanco Mariana, Domínguez Carmen, Grinberg Daniel, Vilageliu Lluïsa, Cormand Bru
Abstract excerpt
Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI (MPS VI), is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ARSB). We aimed to analyze the spectrum of mutations responsible for the disorder in Spanish and Argentinian patients, not previously studied. We identified all the ARSB mutant alleles, nine of them novel, in 12 Spanish...
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