Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4α (HNF4A)

S. S. Fajans; G. I. Bell

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Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4α (HNF4A)

机译：RW谱系受试者中的巨人症和新生儿低血糖症，其编码肝细胞核因子4α（HNF4A）的基因发生突变（Q268X）

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来源
《Diabetologia 》 |2007年第12期| 2600-2601| 共2页
作者
S. S. Fajans; G. I. Bell;
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作者单位

Department of Internal Medicine University of Michigan Health System 1500 E. Medical Center Drive 3920 Taubman Center Ann Arbor MI 48109 USA;

Department of Medicine University of Chicago Chicago IL 60637 USA;

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原文格式 PDF
正文语种 eng
中图分类
关键词
Diabetes; HNF4A; Macrosomia; MODY1; Neonatal hypoglycaemia;

机译：糖尿病;HNF4A;Macrosomia;MODY1;新生儿低血糖;

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专利

1. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. [J] . Ellard S, Colclough K Human mutation . 2006 ,第9期

机译：年轻人成熟发病的糖尿病中编码转录因子肝细胞核因子1α（HNF1A）和4α（HNF4A）的基因突变。
2. Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene [J] . Ewan R Pearson, Sylvia F Boj, Anna M Steele, PLoS Medicine . 2007 ,第4期

机译：HNF4a基因杂合突变患者麦克罗敏瘤和超胰岛素血症低血糖症
3. Rapid Publication: MODY1 Mutation Q268X in hepatocyte Nuclear Factor 4α Allows for Dimerization in Solution but Causes Abnormal Subcellular Localization [J] . Frances M. Sladek0, qing Dallas-Yang, Luviminda Nepomuceno Diabetes . 1998 ,第6期

机译：快速发布：肝细胞核因子4α中的MODY1突变Q268X允许溶液中二聚化，但导致异常的亚细胞定位
4. Factor VII Deficiency:Clinical Manifestation and Molecular Genetics of 718 Subjects with FVII Gene Mutations [C] . F. H. Herrmann, K. Wulff, G. Auerswald, Hemophilia Symposium . 2008

机译：因子vii缺乏：718个受试者的临床表现与FVII基因突变的临床表现和分子遗传学
5. Interleukin-6-induced STAT3 and AP-1 amplify hepatocyte nuclear factor-1-mediated transactivation of hepatic genes, an adaptive response to liver injury. [D] . Leu, Julia I-Ju. 2001

机译：白介素6诱导的STAT3和AP-1放大肝细胞核因子1介导的肝基因反式激活，这是对肝损伤的适应性反应。
6. Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene [O] . Ewan R Pearson, Sylvia F Boj, Anna M Steele, 2007

机译：HNF4A基因杂合突变的患者的巨大血脂和高胰岛素血症性低血糖症
7. Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene [O] . Pearson, Ewan R, Boj, Sylvia F, Steele, Anna M, 2007

机译：HNF4A基因杂合突变的患者的巨大血脂和高胰岛素血症性低血糖症

Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4α (HNF4A)

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