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Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high phenotypic and genetic heterogeneity. Whole-exome sequencing studies have shown that de novo single-nucleotide variations (SNVs) play an important role in sporadic ASD. The present study aimed to search for de novo SNVs using...

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Detalles Bibliográficos
Autores principales: Jiao, Jian, Zhang, Manxue, Yang, Pingyuan, Huang, Yan, Hu, Xiao, Cai, Jia, Yang, Chan, Situ, Mingjing, Zhang, Hui, Fu, Lei, Guo, Kuifang, Huang, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7018782/
https://www.ncbi.nlm.nih.gov/pubmed/31838722
http://dx.doi.org/10.1007/s12031-019-01456-z