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 pathway from DNA to RNA t...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	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
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	MDPI AG 2020-09-01
סדרה:	Brain Sciences
נושאים:	autism spectrum disorder fragile X syndrome FMRP <i>FMR1</i> PCR
גישה מקוונת:	https://www.mdpi.com/2076-3425/10/10/694
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!