Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in 13 candidate genes have been...

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Detalles Bibliográficos
Autores principales: Gao, Zhijie, Xie, Hua, Jiang, Qian, Wu, Nan, Chen, Xiaoli, Chen, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806251/
https://www.ncbi.nlm.nih.gov/pubmed/29422019
http://dx.doi.org/10.1186/s12881-018-0535-7

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