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

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

Abstract 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 h...

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Bibliographic Details
Main Authors: Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Medical Genetics
Subjects:
Neuronal ceroid lipofuscinoses
CLN8
Novel null variant
Online Access:http://link.springer.com/article/10.1186/s12881-018-0535-7

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http://link.springer.com/article/10.1186/s12881-018-0535-7

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