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Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population

Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardat...

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Detalles Bibliográficos
Autores principales: Inoue, Emiko, Watanabe, Yuichiro, Xing, Jingrui, Kushima, Itaru, Egawa, Jun, Okuda, Shujiro, Hoya, Satoshi, Okada, Takashi, Uno, Yota, Ishizuka, Kanako, Sugimoto, Atsunori, Igeta, Hirofumi, Nunokawa, Ayako, Sugiyama, Toshiro, Ozaki, Norio, Someya, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682829/
https://www.ncbi.nlm.nih.gov/pubmed/26657971
http://dx.doi.org/10.1371/journal.pone.0144624