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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: Asahina, Makoto, Fujinawa, Reiko, Nakamura, Sayuri, Yokoyama, Kotaro, Tozawa, Ryuichi, Suzuki, Tadashi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Mynediad Ar-lein: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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