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Article

Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan.

The Journal of veterinary medical science - 1 Mar 2014

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

Abstract excerpt

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 probe-based real-time PCR genotyping assay was developed and evaluated for rapid and large-scale genotyping and...

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Identifiers

PMID: 24161966
DOI: 10.1292/jvms.13-0443
PMCID: PMC3982823

Genes

HEXB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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