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Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan
SIMPLE SUMMARY: GM1 gangliosidosis, a progressive neurodegenerative lysosomal storage disease, occurs in the Shiba Inu breed due to the GLB1:c.1649delC (p.P550Rfs*50) mutation. Previous surveys performed of the Shiba Inu population in Japan showed that the carrier rate was 1.02–2.94%. Currently, a m...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9137666/ https://www.ncbi.nlm.nih.gov/pubmed/35625088 http://dx.doi.org/10.3390/ani12101242 |