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Rare Intranuclear Inclusions in the Brains of 3 Older Adult Males with Fragile X Syndrome: Implications for the Spectrum of Fragile X-Associated Disorders
The FMR1 gene is polymorphic for the length of CGG trinucleotide repeat expansions in the 5′ untranslated region. Premutation (55–200 CGG repeats) and full mutation (>200 CGG repeats) alleles give rise to their respective disorders by different pathogenic mechanisms: RNA gain of function toxicity...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3109086/ https://ncbi.nlm.nih.gov/pubmed/21572337 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e31821d3194 |
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