Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca(2+)-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy

The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han population, including 11 individuals diagnosed with ADNFLE. DNA sample...

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Detalles Bibliográficos
Autores principales: Chen, Zhi-Hong, Wang, Chun, Zhuo, Mu-Qing, Zhai, Qiong-Xiang, Chen, Qian, Guo, Yu-Xiong, Zhang, Yu-Xin, Gui, Juan, Tang, Zhi-Hong, Zeng, Xiao-Lu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668010/
https://www.ncbi.nlm.nih.gov/pubmed/29108277
http://dx.doi.org/10.18632/oncotarget.20694

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