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Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3

Autism is a common neurodevelopmental disorder of complex genetic etiology. Rett syndrome, an X-linked dominant disorder caused by MECP2 mutations, and Angelman syndrome, an imprinted disorder caused by maternal 15q11–q13 or UBE3A deficiency, have phenotypic and genetic overlap with autism. MECP2 en...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Samaco, Rodney C., Hogart, Amber, LaSalle, Janine M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2004
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1224722/
https://ncbi.nlm.nih.gov/pubmed/15615769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddi045
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