Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
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; Human Molecular Genetics, 2012, vol. 21, issue 10, p 2205, ISSN 09646906. ISBN 14602083.

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