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Detection of Rarely Identified Multiple Mutations in MECP2 Gene Do Not Contribute to Enhanced Severity in Rett Syndrome
The objective of our study was to characterize the influence of multiple mutations in the MECP2 gene in a cohort of individuals with Rett syndrome. Further analysis demonstrated that nearly all resulted from de novo in cis mutations, where the disease severity was indistinguishable from single mutat...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3689857/ https://ncbi.nlm.nih.gov/pubmed/23696494 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35979 |
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