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Product

Journal: FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.

Center:

CA-UC Davis at the MIND Institute, UCEDD/LEND

Fiscal Year:

2024

Contact Information:

Randi Hagerman
[email protected]
916-703-0247

Product Description:

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. CGG repeats, methylation status, FMR1 mRNA, and FMRP levels were measured in both PBMCs and fibroblasts derived from 66 individuals.

Keyword(s):

FMR1 protein, IQ

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

To Obtain Copies (URL or Email):

https://doi.org/10.1016/j.jmoldx.2024.02.007

COVID-19 Related Data:

N/A

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