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Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
Fragile X syndrome, the leading heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene consequent to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, “premutation” expansions (55–200 repeats) can give rise to a family of...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3922535/ https://ncbi.nlm.nih.gov/pubmed/23867198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(13)70125-X |
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