Original paper
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions
Abstract
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. As a consequence of FMR1 gene silencing, there is little or no production of FMR1 protein (FMRP), an important element in normal synaptic function. Although the absence of FMRP has...
Paper Details
Title
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions
Published Date
Dec 31, 2019
Journal
Volume
14
Issue
12
Pages
e0226811 - e0226811