A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome

Fragile X syndrome (FXS) is the most common inherited intellectual disability. FXS is caused by a trinucleotide repeat expansion in the 5′ untranslated region of the FMR1 gene, which leads to gene methylation, transcriptional silencing, and lack of expression of Fragile X Messenger Riboprotein (FMRP...

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Detalles Bibliográficos
Autores principales: Straub, Devan, Schmitt, Lauren M., Boggs, Anna E., Horn, Paul S., Dominick, Kelli C., Gross, Christina, Erickson, Craig A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9992378/
https://www.ncbi.nlm.nih.gov/pubmed/36882476
http://dx.doi.org/10.1038/s41598-023-29786-4

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