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文献和实验Evaluation of Rett Syndrome Symptom Improvement by Metabolic Modulators in Mecp2‐Mutant Mice
recapitulate many symptoms of Rett Syndrome, an X?linked disorder caused by mutations in methyl?CpG?binding protein 2 (MECP2 ). The study of Mecp2 ?null male mice has provided insight into pathogenesis of the disorder?most recently, dysregulation of cholesterol
The detection of abnormal variations in a DNA sequence is a challenge for genetic research and clinical diagnostic applications. Among the different mutation detection methods currently available, DNA sequence analysis is largely considered
Rett syndrome (RTT) is a pervasive developmental disorder, primarily affecting girls. RTT causes a wide variety of debilitating symptoms and no cure currently exists. Mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2
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