Article
Fragile X syndrome.
Colombia medica (Cali, Colombia) - 1 Jan 2000
Saldarriaga Wilmar, Tassone Flora, González-Teshima Laura Yuriko, Forero-Forero Jose Vicente, Ayala-Zapata Sebastián, Hagerman Randi
Abstract excerpt
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation....
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