As MeCP2 acts a multifunctional regulator of gene transcription, knowing the gene mutation is sufficient to make a diagnosis, but this information is not sufficient to understand the mechanisms by which, the MECP2 gene mutation drives the clinical manifestations in this complex neurodevelopmental disease.
De Felice, C., Signorini, C., Leoncini, S., Durand, T., Ciccoli, L., Hayek, J. (2015). Oxidative stress: a hallmark of Rett syndrome. FUTURE NEUROLOGY, 10(3), 179-182 [10.2217/FNL.15.9].
Oxidative stress: a hallmark of Rett syndrome
SIGNORINI, CINZIA;CICCOLI, LUCIA;
2015-01-01
Abstract
As MeCP2 acts a multifunctional regulator of gene transcription, knowing the gene mutation is sufficient to make a diagnosis, but this information is not sufficient to understand the mechanisms by which, the MECP2 gene mutation drives the clinical manifestations in this complex neurodevelopmental disease.
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