Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.
第一作者:
S,Yamada
第一单位:
Department of Cell Biology, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.
作者:
医学主题词
发病年龄(Age of Onset);氨基酸序列(Amino Acid Sequence);氨基酸取代(Amino Acid Substitution);DNA结合蛋白质类(DNA-Binding Proteins);糖尿病, 2型(Diabetes Mellitus, Type 2);糖尿病视网膜病变(Diabetic Retinopathy);女(雌)性(Female);肝细胞核因子1(Hepatocyte Nuclear Factor 1);肝细胞核因子1α(Hepatocyte Nuclear Factor 1-alpha);肝细胞核因子1β(Hepatocyte Nuclear Factor 1-beta);人类(Humans);日本(Japan);男(雄)性(Male);突变, 误义(Mutation, Missense);核蛋白质类(Nuclear Proteins);系谱(Pedigree);点突变(Point Mutation);聚合酶链反应(Polymerase Chain Reaction);转录因子(Transcription Factors);转录激活(Transcriptional Activation)
DOI
10.2337/diabetes.48.3.645
PMID
10078571
发布时间
2019-05-15
- 浏览13
Diabetes
645-8页
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