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Mutation screening in Rett syndrome patients
Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir et al reported that mutations in the MECP2 gene were detected in around 50% of RTT patients. In this study, we have screened the MECP2 gene for mutations in our RTT materia...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734556/ https://ncbi.nlm.nih.gov/pubmed/10745042 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.4.250 |
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