Article

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients With Neurobehavioral Assessments

2020-06-15

Abstract excerpt

<title>Abstract</title> <p><bold>Background.</bold> Fragile X syndrome (FXS) is caused by silencing of the <italic>FMR1</italic> gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying <italic>FMR1</italic> silencing, CGG repeat expansion, is well characterized; however, delineation of the pathway from DNA to RNA to protein using biosamples from well charact...

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Literature Corpus work: 0aa83f29-f40c-5b27-8428-a480250d95c5
DOI: 10.21203/rs.3.rs-34874/v1

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