Article
Identification of cis-regulatory elements for MECP2 expression.
Human molecular genetics - 1 Jun 2006
Liu Jinglan, Francke Uta
Abstract excerpt
Rett syndrome (RTT) is an X-linked dominant disabling neurodevelopmental disorder caused by loss of function mutations in the MECP2 gene, located at Xq28, which encodes a multifunctional protein. MECP2 expression is regulated in a developmental stage and cell-type-specific manner. The need for tightly controlled MeCP2 levels in brain is strongly suggested by neurologically abnormal phenotypes of mouse models with...
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