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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2012
विषय:
Articles
ऑनलाइन पहुंच: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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