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...

Celý popis

Podrobná bibliografia

Vydané v:	Human molecular genetics Ročník 21; číslo 10; s. 2205
Hlavní autori:	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:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 15.05.2012
Predmet:	Amino Acid Sequence Cerebellar Ataxia - genetics Deafness - genetics DNA (Cytosine-5-)-Methyltransferase 1 DNA (Cytosine-5-)-Methyltransferases - genetics Exome Exons Genes, Dominant Humans Molecular Sequence Data Mutation Narcolepsy - genetics Pedigree Phenotype
ISSN:	1460-2083, 1460-2083
On-line prístup:	Zistit podrobnosti o prístupe
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!