Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30–40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy–cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1...

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Autores principales: Winkelmann, Juliane, Lin, Ling, Schormair, Barbara, Kornum, Birgitte R., Faraco, Juliette, Plazzi, Giuseppe, Melberg, Atle, Cornelio, Ferdinando, Urban, Alexander E., Pizza, Fabio, Poli, Francesca, Grubert, Fabian, Wieland, Thomas, Graf, Elisabeth, Hallmayer, Joachim, Strom, Tim M., Mignot, Emmanuel
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2012
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3465691/
https://ncbi.nlm.nih.gov/pubmed/22328086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds035
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