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...
Sparad:
| Huvudupphovsmän: | , , , , , |
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| Materialtyp: | Artigo |
| Språk: | engelska |
| Publicerad: |
2019
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| Länkar: | https://doi.org/10.1002/humu.23860 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23860 |
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