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

    RAHMAN Mohammad Mahbubur , YAMABE Remi , YAMATO Osamu , YABUKI Akira , KOHYAMA Moeko , MITANI Sawane , MIZUKAMI Keijiro , UDDIN Mohammad Mejbah , CHANG Hye-Sook , KUSHIDA Kazuya , KISHIMOTO Miori

    GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the <i>HEXB</i> … In canine SD, a pathogenic mutation (c.283delG) of the canine <i>HEXB</i> … The real-time PCR assay clearly showed all genotypes of canine SD. …

    Journal of Veterinary Medical Science 76(2), 295-299, 2014

    J-STAGE  Ichushi Web 

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