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Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease

SIMPLE SUMMARY: Niemann–Pick disease (NP) type C is an autosomal recessive metabolic disorder caused by mutations in the NPC1 or NPC2 gene. It is characterized by cholesterol accumulation in the lysosomes and late endosomes. Herein, we studied the molecular basis of Siamese and Japanese domestic (JD...

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Detalles Bibliográficos
Autores principales: Rakib, Tofazzal Md, Islam, Md Shafiqul, Uddin, Mohammad Mejbah, Rahman, Mohammad Mahbubur, Yabuki, Akira, Yamagami, Tetsushi, Morozumi, Motoji, Uchida, Kazuyuki, Maki, Shinichiro, Faruq, Abdullah Al, Yamato, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252137/
https://www.ncbi.nlm.nih.gov/pubmed/37458497
http://dx.doi.org/10.3390/ani13111744