Article
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.
American journal of medical genetics. Part A - 1 May 2014
Fatima Tasneem, Zaidi Syed Aley Hasan, Sarfraz Noorjehan, Perween Siddiqa, Khurshid Faraz, Imtiaz Fauzia
Abstract excerpt
Fragile X syndrome is considered the most common heritable form of X-linked intellectual disability (ID). The syndrome is caused by silencing of the fragile X mental retardation 1 gene (Xq27.3) due to hypermethylation. This mutation results in absence or deficit of its protein product, the fragile X mental retardation protein (FMRP) that affects synaptic plasticity in neurons, hence leads to brain dysfunction....
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