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The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the first causative genes, more than 530 mutation...

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Detalles Bibliográficos
Autores principales: Gardner, Emily, Mole, Sara E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558747/
https://www.ncbi.nlm.nih.gov/pubmed/34733232
http://dx.doi.org/10.3389/fneur.2021.754045