GM2 Gangliosidosis (B Variant) in Two Japanese Chins: Clinical, Magnetic Resonance Imaging and Pathological Characteristics
A frameshift mutation in the canine HEXB gene in Toy Poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kit...
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Veröffentlicht in: | Journal of veterinary internal medicine 2013-07, Vol.27 (4), p.771-776 |
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Hauptverfasser: | , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | A frameshift mutation in the canine HEXB gene in Toy Poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat. Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. |
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ISSN: | 0891-6640 1939-1676 |
DOI: | 10.1111/jvim.12118 |