Mutation update: Review of <i>TPP1</i> gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131...
Guardado en:
| Autores principales: | , , , , , |
|---|---|
| Formato: | Artigo |
| Lenguaje: | inglés |
| Publicado: |
2019
|
| Acceso en línea: | https://doi.org/10.1002/humu.23860 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23860 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|