Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features in FXS males. This study repor...

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Vydáno v:Int J Mol Sci
Hlavní autoři: Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K., Aliaga, Solange M., Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G., Palmer, Elizabeth E., Amor, David J., Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6721168/
https://ncbi.nlm.nih.gov/pubmed/31405222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20163907
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