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.

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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Bibliographic Details
Main Authors: Jun Egawa, Yuichiro Watanabe, Chenyao Wang, Emiko Inoue, Atsunori Sugimoto, Toshiro Sugiyama, Hirofumi Igeta, Ayako Nunokawa, Masako Shibuya, Itaru Kushima, Naoki Orime, Taketsugu Hayashi, Takashi Okada, Yota Uno, Norio Ozaki, Toshiyuki Someya
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4373693?pdf=render

Internet

http://europepmc.org/articles/PMC4373693?pdf=render

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