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Journal: Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.

Center:
Fiscal Year:
2024
Contact Information:
Product Description:
Mosaic males with unmethylated FMR1 FM alleles may lack behavioral phenotypes due to the presence of smaller alleles producing the FMR1 protein (FMRP). However, these individuals could be at a higher risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) due to the increased expression of mRNA, similar to those who only have a premutation.
Keyword(s):
Fragile X Syndrome
Product/Publication Type(s):
Peer-reviewed publications in scholarly journals Published/In Press
Target Audience:
Professionals
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COVID-19 Related Data:
N/A