Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disease caused by variants in the TPP1 gene that lead to the deficiency of the lysosomal enzyme tripeptidyl peptidase I (TPP1) activity. Herein, we report a rare case of CLN2 caused by two novel variants of TPP1...

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Detalles Bibliográficos
Autores principales: Miao, Sui-Bing, Guo, Hui, Kong, De-Xian, Zhao, Yuan-Yuan, Pan, Shu-Hong, Jiang, Yan, Gao, Xing, Wu, Xiao-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471087/
https://www.ncbi.nlm.nih.gov/pubmed/36118858
http://dx.doi.org/10.3389/fgene.2022.937485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471087/
https://www.ncbi.nlm.nih.gov/pubmed/36118858
http://dx.doi.org/10.3389/fgene.2022.937485

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