Faculty of Medicine, Diponegoro University, Indonesia
BibTex Citation Data :
@article{JBTR6895, author = {Sultana Faradz and Tri Winarni}, title = {Focal areas of a high rate of fragile X in Indonesia: a long term follow up}, journal = {Journal of Biomedicine and Translational Research}, volume = {5}, number = {2}, year = {2019}, keywords = {Fragile X syndrome; High Rate; Indonesia}, abstract = { Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene ( FMR1 ), which is located on Xq27.3. The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability }, issn = {2503-2178}, pages = {67--68} doi = {10.14710/jbtr.v5i2.6895}, url = {https://ejournal2.undip.ac.id/index.php/jbtr/article/view/6895} }
Refworks Citation Data :
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3. The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability
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