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MeCP2 mutations: progress towards understanding and treating Rett syndrome

Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 funct...

詳細記述

保存先:
書誌詳細
出版年:Genome Med
主要な著者: Shah, Ruth R., Bird, Adrian P.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5316219/
https://ncbi.nlm.nih.gov/pubmed/28212680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0411-7
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