Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity

Genetic variants, such as single nucleotide polymorphisms (SNPs), in the deoxyribonuclease I (DNase I) gene which remarkably reduce or abolish the activity are assumed to be substantially responsible for the genetic backgrounds determining susceptibility to autoimmune dysfunction. Here, we evaluated...

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Detalles Bibliográficos
Autores principales: Ueki, Misuzu, Kimura-Kataoka, Kaori, Fujihara, Junko, Iida, Reiko, Kawai, Yasuyuki, Kusaka, Akari, Sasaki, Takamitsu, Takeshita, Haruo, Yasuda, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754452/
https://www.ncbi.nlm.nih.gov/pubmed/31541133
http://dx.doi.org/10.1038/s41598-019-49935-y

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