Twenty-one novel mutations in the GLB1 g
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Raül Santamaria; Amparo Chabás; Maria Josep Coll; Clara Sa Miranda; Lluïsa Vilag
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Article
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2006
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John Wiley and Sons
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English
⚖ 174 KB
👁 1 views
## Communicated by Elizabeth Neufeld GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by β-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of onset and severit