Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited neurodegenerative disorders mainly affecting children, and at least 13 causative genes (CLN1 to CLN8 and CLN10 to CLN14) have been identified. Here, we reported a novel homozygous missense mutation (c.434G > C, p.A...

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Detalles Bibliográficos
Autores principales: Luo, Sukun, Bi, Bo, Zhu, Baiqi, Tan, Li, Zhao, Peiwei, Huang, Yufeng, Wu, Gefei, Zhou, Aifeng, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492598/
https://www.ncbi.nlm.nih.gov/pubmed/32983231
http://dx.doi.org/10.3389/fgene.2020.536221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492598/
https://www.ncbi.nlm.nih.gov/pubmed/32983231
http://dx.doi.org/10.3389/fgene.2020.536221

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