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MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome
Abstract 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 r...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wiley
2020-02-01
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| Σειρά: | Molecular Genetics & Genomic Medicine |
| Θέματα: | |
| Διαθέσιμο Online: | https://doi.org/10.1002/mgg3.1088 |
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