Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population

Rare inherited variations in multiplex families with autism spectrum disorder (ASD) are suggested to play a major role in the genetic etiology of ASD. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in two families, each with three affected sib...

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Detalles Bibliográficos
Autores principales: Egawa, Jun, Watanabe, Yuichiro, Wang, Chenyao, Inoue, Emiko, Sugimoto, Atsunori, Sugiyama, Toshiro, Igeta, Hirofumi, Nunokawa, Ayako, Shibuya, Masako, Kushima, Itaru, Orime, Naoki, Hayashi, Taketsugu, Okada, Takashi, Uno, Yota, Ozaki, Norio, Someya, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373693/
https://www.ncbi.nlm.nih.gov/pubmed/25806950
http://dx.doi.org/10.1371/journal.pone.0119413

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