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Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in...

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書目詳細資料
發表在:Eur J Hum Genet
Main Authors: Ricotti, Valeria, Jägle, Herbert, Theodorou, Maria, Moore, Anthony T, Muntoni, Francesco, Thompson, Dorothy A
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929863/
https://ncbi.nlm.nih.gov/pubmed/26081639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.135
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