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...

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Detalles Bibliográficos
Autores principales: Pervin, Shahnaj, Islam, Md Shafiqul, Yorisada, Yamato, Sakai, Aya, Masamune, Shimma, Yabuki, Akira, Rakib, Tofazzal Md, Maki, Shinichiro, Tacharina, Martia Rani, Yamato, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
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

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