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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Detalles Bibliográficos
Autores principales: Li, Wanxing, Yang, Lin, Tang, Chuanqing, Liu, Kaiyi, Lu, Yulan, Wang, Huijun, Yan, Kai, Qiu, Zilong, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710280/
https://www.ncbi.nlm.nih.gov/pubmed/33148880
http://dx.doi.org/10.1172/jci.insight.135697

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