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A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

BACKGROUND: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys(2)His(2) zinc finger transcription factor, is essential for the development of immune and neural systems. METHODS: Herein, we desc...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Qiao, Fengchang, Wang, Chen, Luo, Chunyu, Wang, Yan, Shao, Binbin, Tan, Jianxin, Hu, Ping, Xu, Zhengfeng
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732278/
https://ncbi.nlm.nih.gov/pubmed/31347296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.897
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