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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of veterinary internal medicine 2013-07, Vol.27 (4), p.771-776
Hauptverfasser: Freeman, A.C., Platt, S.R., Vandenberg, M., Holmes, S., Kent, M., Rech, R., Howerth, E., Mishra, S., O'Brien, D.P., Wenger, D.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext bestellen
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
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.
ISSN:0891-6640
1939-1676
DOI:10.1111/jvim.12118