Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the HEXB gene. In canine SD, a pathogenic mutation (c.283delG) of the canine HEXB gene has been identified in toy poodles. In the present study, a TaqMan pro...

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Hlavní autoři: RAHMAN, Mohammad Mahbubur, YABUKI, Akira, KOHYAMA, Moeko, MITANI, Sawane, MIZUKAMI, Keijiro, UDDIN, Mohammad Mejbah, CHANG, Hye-Sook, KUSHIDA, Kazuya, KISHIMOTO, Miori, YAMABE, Remi, YAMATO, Osamu
Médium: Artigo
Jazyk:Inglês
Vydáno: The Japanese Society of Veterinary Science 2013
Témata:
Internal Medicine
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3982823/
https://ncbi.nlm.nih.gov/pubmed/24161966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1292/jvms.13-0443
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