Mutation update: Review of <i>TPP1</i> gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

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...

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书目详细资料
Main Authors:	Emily Gardner, Mitch Bailey, Angela Schulz, Mikel Aristorena, Nicole L. Miller, Sara Mole
格式:	Artigo
语言:	英语
出版:	2019
在线阅读:	https://doi.org/10.1002/humu.23860 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23860
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