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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most comm...

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Detalles Bibliográficos
Autores principales: Vallianatos, Christina N., Farrehi, Clara, Friez, Michael J., Burmeister, Margit, Keegan, Catherine E., Iwase, Shigeki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893713/
https://www.ncbi.nlm.nih.gov/pubmed/29670509
http://dx.doi.org/10.3389/fnmol.2018.00104