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Fragile X spectrum disorders
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5′ untranslated region; abnormal alleles of dynamic mutations include the full mutation...
Enregistré dans:
| Publié dans: | Intractable Rare Dis Res |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4298643/ https://ncbi.nlm.nih.gov/pubmed/25606363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2014.01022 |
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