Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Kernohan, Kristin D

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. [electronic resource] - Clinical epigenetics 2016 - 91 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1868-7083

10.1186/s13148-016-0254-x doi


Amino Acid Substitution
Cerebellar Ataxia--genetics
CpG Islands
DNA (Cytosine-5-)-Methyltransferase 1
DNA (Cytosine-5-)-Methyltransferases--genetics
DNA Methylation
Epigenesis, Genetic
Female
Genetic Loci
Genome-Wide Association Study
Hearing Loss, Sensorineural--genetics
Humans
Male
Narcolepsy--genetics
Pedigree
Sequence Analysis, DNA--methods