Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Baets, Jonathan, Duan, Xiaohui, Wu, Yanhong, Smith, Gordon, Seeley, William W., Mademan, Inès, McGrath, Nicole M., Beadell, Noah C., Khoury, Julie, Botuyan, Maria-Victoria, Mer, Georges, Worrell, Gregory A., Hojo, Kaori, DeLeon, Jessica, Laura, Matilde, Liu, Yo-Tsen, Senderek, Jan, Weis, Joachim, Van den Bergh, Peter, Merrill, Shana L., Reilly, Mary M., Houlden, Henry, Grossman, Murray, Scherer, Steven S., De Jonghe, Peter, Dyck, Peter J., Klein, Christopher J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5014076/
https://ncbi.nlm.nih.gov/pubmed/25678562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv010
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