Cargando…
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...
Autores principales: | , |
---|---|
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 |