Mutation update: Review of TPP1 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...

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Detalles Bibliográficos
Autores principales: Gardner, Emily, Bailey, Mitch, Schulz, Angela, Aristorena, Mikel, Miller, Nicole, Mole, Sara E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Mutation Updates
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851559/
https://www.ncbi.nlm.nih.gov/pubmed/31283065
http://dx.doi.org/10.1002/humu.23860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851559/
https://www.ncbi.nlm.nih.gov/pubmed/31283065
http://dx.doi.org/10.1002/humu.23860

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