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Ngly1 (−/−) rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems

N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological phenotypes. Because of few animal models that recapitu...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Asahina, Makoto, Fujinawa, Reiko, Nakamura, Sayuri, Yokoyama, Kotaro, Tozawa, Ryuichi, Suzuki, Tadashi
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7322575/
https://ncbi.nlm.nih.gov/pubmed/32259258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa059
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