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190 Abstract Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a protein involved in synaptic plasticity and maturation. Individuals with FXS present w...
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Cultured fibroblasts, derived from patients with the Hurler and Hunter syndromes, show defective degradation of sulfated mucopolysaccharide. The aberrant metabolism of Hurler cells can be corrected by secretions of fibroblasts of genotype other than Hurler, and similarly, the defect of Hunter cells can be corrected by secretions of fibroblasts of genotype other than Hunter. The active factors i...
متن کاملSíndrome de reiter : relato de caso * Reiter ' s syndrome : a case report
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 1954
ISSN: 0004-282X
DOI: 10.1590/s0004-282x1954000100005