DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

Autosomal dominant cerebellar ataxia-deafness and narcolepsy (ADCA-DN) and Hereditary sensory neuropathy with dementia and hearing loss (HSN1E) are two rare, overlapping neurodegenerative syndromes that have been recently linked to allelic dominant pathogenic mutations in the DNMT1 gene, coding for...

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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Maresca, Alessandra, Zaffagnini, Mirko, Caporali, Leonardo, Carelli, Valerio, Zanna, Claudia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2015
Konular:
Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357308/
https://ncbi.nlm.nih.gov/pubmed/25815005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00090
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