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Ocular MECP2 Protein Expression in Patients with and without Rett Syndrome

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl CpG binding protein 2 (MECP2) gene. MECP2 protein is primarily expressed in neurons, and mutations in the gene lead to the clinical features of RTT in human patients and neurological deficits in murine models. Vis...

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Bibliografiske detaljer
Main Authors: Jain, Deepali, Singh, Kamaljeet, Chirumamilla, Sankar, Bibat, Genila M., BluePhD, Mary E., Naidu, SakkuBai R., Eberhart, Charles G
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2916867/
https://ncbi.nlm.nih.gov/pubmed/20682201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2010.02.018
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