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Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain
Rett syndrome is a neurodevelopmental disorder with severe mental retardation caused by mutations in the MECP2 gene. Mutations in the MECP2 gene are also associated with other genetic disorders, including X linked mental retardation in males. Missense mutations identified so far are present primaril...
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| Päätekijät: | , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Group
2003
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1735522/ https://ncbi.nlm.nih.gov/pubmed/12843318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.7.487 |
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