Article
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.
PloS one - 1 Jan 2015
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
Abstract excerpt
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 siblings. We also performed a two-stage follow-up case-control study in a Japanese population. WES of the six affected...
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