A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

Intellectual disability (ID) and epilepsy often occur together and have a dramatic impact on the development and quality of life of the affected children. Polyalanine (polyA)-expansion-encoding mutations of aristaless-related homeobox (ARX) cause a spectrum of X-linked ID (XLID) diseases and chronic...

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Detalhes bibliográficos
Main Authors: Poeta, Loredana, Fusco, Francesca, Drongitis, Denise, Shoubridge, Cheryl, Manganelli, Genesia, Filosa, Stefania, Paciolla, Mariateresa, Courtney, Monica, Collombat, Patrick, Lioi, Maria Brigida, Gecz, Jozef, Ursini, Matilde Valeria, Miano, Maria Giuseppina
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542471/
https://ncbi.nlm.nih.gov/pubmed/23246292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.11.008
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