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Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A and D in lysosomes of most cells. Heterogenous...

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Detalles Bibliográficos
Autores principales:	Ren, Xiao-Tun, Wang, Xiao-Hui, Ding, Chang-Hong, Shen, Xiang, Zhang, Hao, Zhang, Wei-Hua, Li, Jiu-Wei, Ren, Chang-Hong, Fang, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6494930/ https://www.ncbi.nlm.nih.gov/pubmed/31105743 http://dx.doi.org/10.3389/fgene.2019.00370

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