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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78( )patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutati...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Group
2001
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734835/ https://ncbi.nlm.nih.gov/pubmed/11238684 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.3.171 |
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