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Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations
Fragile X Syndrome is caused by the expansion of an unstable CGG-repeat tract in the 5′-UTR of the FMR1 gene, which generally results in transcriptional silencing and consequent absence of the FMR1 protein. To date, the smallest premutation allele reported to expand to a full mutation allele in a si...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Investigative Pathology
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2710706/ https://ncbi.nlm.nih.gov/pubmed/19525339 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080174 |
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