A Genotype-Phenotype Study of High-Resolution <i>FMR1</i> Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

A Genotype-Phenotype Study of High-Resolution <i>FMR1</i> Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

Fragile X syndrome (FXS) is caused by silencing of the <i>FMR1</i> gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying <i>FMR1</i> silencing, CGG repeat expansion, is well characterized; however, delineation of the p...

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Bibliographic Details
Main Authors: Dejan B. Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, Dragana D. Protic, Eran Bram, E. Mark Mahone, Kimberly Nicholson, Kristen Culp, Kamyab Javanmardi, Jon Kemppainen, Andrew Hadd, Kevin Sharp, Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Lili Zhou, William Ted Brown, Elizabeth Berry-Kravis, Walter E. Kaufmann, Gary J. Latham
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Brain Sciences
Subjects:
autism spectrum disorder
fragile X syndrome
FMRP
<i>FMR1</i>
PCR
Online Access:https://www.mdpi.com/2076-3425/10/10/694

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https://www.mdpi.com/2076-3425/10/10/694

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