DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss

Neurology

Volumn 80, Issue 9, 2013, Pages 824-828

  Klein, Christopher J ^a   Bird, Tom ^c   Ertekin Taner, Nilufer ^d   Lincoln, Sarah ^d   Hjorth, Robert ^e   Wu, Yanhong ^a   Kwok, John ^f   Mer, Georges ^b   Dyck, Peter J ^a   Nicholson, Garth A ^g  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d MAYO CLINIC   (United States)

^e University of Sydney ^*  (Canada)

^f NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^g UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 1; DMAP1 PROTEIN, HUMAN; REPRESSOR PROTEIN;

AGED; ALZHEIMER DISEASE; ARTICLE; AUTONOMIC NEUROPATHY; AUTOPSY; CONTROLLED STUDY; DEMENTIA; EXON; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEREDITARY SENSORY AUTONOMIC NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; PERSONALITY DISORDER; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; ADULT; DIFFERENTIAL DIAGNOSIS; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NARCOLEPSY; NEUROPATHY; PEDIGREE;

ADULT; AGED; ALZHEIMER DISEASE; DIAGNOSIS, DIFFERENTIAL; FEMALE; FRONTOTEMPORAL DEMENTIA; HEARING LOSS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MUTATION; NARCOLEPSY; PEDIGREE; PHENOTYPE; REPRESSOR PROTEINS;

MLCS; MLOWN;

EID: 84876336542     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318284076d     Document Type: Article

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