A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
第一作者:
Yingying,Gong
第一单位:
Department of Endocrinology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan Road 2, Guangzhou, 510080, P. R. China.;Department of Geriatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510080, Guangdong, China.
作者:
主题词
成年人(Adult);细胞凋亡(Apoptosis);中国(China);基因, 显性(Genes, Dominant);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);突变(Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);Wolfram综合征(Wolfram Syndrome)
DOI
10.1186/s12902-021-00748-z
PMID
33879153
发布时间
2021-11-26
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