共 74 条
[1]
Fox R(2016)A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency J Peripher Nerv Syst 21 150-153
[2]
Ealing J(2014)Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E EPIGENETICS-US 9 1184-1193
[3]
Murphy H(2013)Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE J Peripher Nerv Syst 18 89-93
[4]
Gow DP(2015)DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated? Front Genet 6 90-1647
[5]
Gosal D(2015)Dual functions of the RFTS domain of Dnmt1 in replication-coupled DNA methylation and in protection of the genome from aberrant methylation PLoS One 10 e137509-828
[6]
Sun Z(2014)A novel EBP c.224T>a mutation supports the existence of a male-specific disorder independent of CDPX2 Am J Med Genet A 164A 1642-600
[7]
Wu Y(2013)DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss Neurology 80 824-861
[8]
Ordog T(2011)Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss Nat Genet 43 595-undefined
[9]
Baheti S(2015)Defects of mutant DNMT1 are linked to a spectrum of neurological disorders Brain 138 845-undefined
[10]
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