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A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs

✍ Scribed by O. Yamato; D. Endoh; A. Kobayashi; Y. Masuoka; M. Yonemura; A. Hatakeyama; H. Satoh; M. Tajima; M. Yamasaki; Y. Maede


Book ID
110406575
Publisher
Springer
Year
2002
Tongue
English
Weight
42 KB
Volume
25
Category
Article
ISSN
0141-8955

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Twenty-one novel mutations in the GLB1 g
✍ Raül Santamaria; Amparo Chabás; Maria Josep Coll; Clara Sa Miranda; Lluïsa Vilag 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 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