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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
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On-line přístup: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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