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MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls. Its causative gene is the X‐linked MECP2 encoding the methyl‐CpG‐binding protein 2 (MeCP2). The gene comprises four exons and generates two isoforms, namely MECP2_e1 and MECP2_e2. However, it remains u...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7005616/ https://ncbi.nlm.nih.gov/pubmed/31816669 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1088 |
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