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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	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
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	MDPI AG 2020-09-01
Sarja:	Brain Sciences
Aiheet:	autism spectrum disorder fragile X syndrome FMRP <i>FMR1</i> PCR
Linkit:	https://www.mdpi.com/2076-3425/10/10/694
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