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Clinical and molecular implications of mosaicism in FMR1 full mutations
Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to fragile X syndrome (FXS) through a process that generally involves hypermethylation of the FMR1 promoter region and gene silencing, resulting in absence of expression of the encoded protein, FMRP. However, mosaicis...
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| Hoofdauteurs: | , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Frontiers Media S.A.
2014
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4166380/ https://ncbi.nlm.nih.gov/pubmed/25278957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00318 |
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