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Expanded Clinical Phenotype of Women With the FMR1 Premutation
Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well char...
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| Huvudupphovsmän: | , , , , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2008
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2888464/ https://ncbi.nlm.nih.gov/pubmed/18348275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32060 |
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