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Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis

✍ Scribed by L Gort; R Santamaria; D Grinberg; L Vilageliu; A Chabás

Book ID: 110888436
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 78 KB
Volume: 72
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2007.00843.x

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## 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