Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.
第一作者:
Maciej T,Malecki
第一单位:
Department of Metabolic Diseases, Jagiellonian University, Medical College, Krakow, Poland. malecki_malecki@yahoo.com
作者:
主题词
发病年龄(Age of Onset);氨基酸取代(Amino Acid Substitution);血糖(Blood Glucose);DNA(DNA);糖尿病(Diabetes Mellitus);外显子(Exons);禁食(Fasting);女(雌)性(Female);移码突变(Frameshift Mutation);遗传标记(Genetic Markers);基因检测(Genetic Testing);肝细胞核因子1α(Hepatocyte Nuclear Factor 1-alpha);杂合子(Heterozygote);人类(Humans);肾疾病(Kidney Diseases);男(雄)性(Male);突变(Mutation);突变, 误义(Mutation, Missense);系谱(Pedigree);波兰(Poland);聚合酶链反应(Polymerase Chain Reaction);多态现象, 遗传(Polymorphism, Genetic);启动区, 遗传(Promoter Regions, Genetic);放射摄影术(Radiography);放射性核素显像(Radionuclide Imaging);登记(Registries);序列分析, DNA(Sequence Analysis, DNA);超声检查(Ultrasonography)
DOI
10.2337/diacare.28.11.2774
PMID
16249556
发布时间
2019-05-16
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Diabetes care
2774-6页
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