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

BACKGROUND: Mutations in DNA methyltransferase 1 (DNMT1) have been identified in 2 autosomal dominant syndromes: 1) hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E); and 2) cerebellar ataxia, deafness, and narcolepsy. Both syndromes have mutations in targeting sequence...

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Detaylı Bibliyografya
Asıl Yazarlar: Klein, Christopher J., Bird, Tom, Ertekin-Taner, Nilufer, Lincoln, Sarah, Hjorth, Robert, Wu, Yanhong, Kwok, John, Mer, Georges, Dyck, Peter J., Nicholson, Garth A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2013
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598458/
https://ncbi.nlm.nih.gov/pubmed/23365052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318284076d
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