Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)

SIMPLE SUMMARY: Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessive metabolic disorder caused by mutations of the GAA gene encoding lysosomal acid α-glucosidase. Here, we studied the molecular basis of an eight-month-old domestic short-haired cat previously diagnosed with...

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Detalles Bibliográficos
Autores principales: Rakib, Tofazzal Md, Islam, Md Shafiqul, Tanaka, Shigeki, Yabuki, Akira, Pervin, Shahnaj, Maki, Shinichiro, Faruq, Abdullah Al, Tacharina, Martia Rani, Yamato, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135178/
https://www.ncbi.nlm.nih.gov/pubmed/37106898
http://dx.doi.org/10.3390/ani13081336

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