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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome
BACKGROUND: More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific MECP2 mu...
Tallennettuna:
| Julkaisussa: | BMC Med Genet |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6995101/ https://ncbi.nlm.nih.gov/pubmed/32005172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0960-2 |
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