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Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes

MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. While deletion or duplication of MBD5 may contribute to a genetic predisposition to autism spectrum disorders (ASD), intellectual disability, or epilepsy, the impact of rare MBD5 single nucleotide variants (SNVs) on neurod...

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Detalles Bibliográficos
Autores principales: Ishizuka, Kanako, Kimura, Hiroki, Yoshimi, Akira, Banno, Masahiro, Kushima, Itaru, Uno, Yota, Okada, Takashi, Mori, Daisuke, Aleksic, Branko, Ozaki, Norio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nagoya University 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159472/
https://www.ncbi.nlm.nih.gov/pubmed/28008202
http://dx.doi.org/10.18999/nagjms.78.4.465