Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and F213I (p.Phe213Ile) are the most common in th...

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Detalles Bibliográficos
Autores principales: Guo, Jia-ni, Guan, Ming, Jiang, Nan, Li, Na, Li, Ya-jun, Zhang, Jin, Ma, Duan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9196271/
https://www.ncbi.nlm.nih.gov/pubmed/35711931
http://dx.doi.org/10.3389/fgene.2022.892457

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