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Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

BACKGROUND: DNA methyltransferase 1 (EC 2.1.1.37), encoded by DNMT1 gene, is one of key enzymes in maintaining DNA methylation patterns of the human genome. It plays a crucial role in embryonic development, imprinting and genome stability, cell differentiation. The dysfunction of this group of enzym...

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Detalles Bibliográficos
Autores principales:	Zheng, Wenxia, Yan, Zhenxing, He, Rongni, Huang, Yaowei, Lin, Aiqun, Huang, Wei, Su, Yuying, Li, Shaoyuan, Zhang, Victor Wei, Xie, Huifang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195733/ https://www.ncbi.nlm.nih.gov/pubmed/30342480 http://dx.doi.org/10.1186/s12883-018-1177-2

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