Mutations of CNTNAP1 led to defects in neuronal development

Mutations of CNTNAP1 were associated with myelination disorders, suggesting the role of CNTNAP1 in myelination processes. Whether CNTNAP1 may have a role in early cortical neuronal development is largely unknown. In this study, we identified 4 compound heterozygous mutations of CNTNAP1 in 2 Chinese...

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Bibliographic Details
Main Authors: Wanxing Li, Lin Yang, Chuanqing Tang, Kaiyi Liu, Yulan Lu, Huijun Wang, Kai Yan, Zilong Qiu, Wenhao Zhou
Format: Article
Language:English
Published: American Society for Clinical investigation 2020-11-01
Series:JCI Insight
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Online Access:https://doi.org/10.1172/jci.insight.135697

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