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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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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2013
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| Assuntos: | |
| Acesso em linha: | 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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