Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

Kadakol A; Sappal BS; Ghosh SS; Lowenheim M; Chowdhury A; Chowdhury S; Santra A; Arias IM; Chowdhury JR; Chowdhury NR

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Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

机译：UGT1A1基因的编码区突变和吉尔伯特型启动子异常的相互作用导致中等程度的未结合的高胆红素血症，并可能导致新生儿角膜炎。

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来源
《Journal of Medical Genetics》 |2001年第4期|共6页
作者
Kadakol A; Sappal BS; Ghosh SS; Lowenheim M; Chowdhury A; Chowdhury S; Santra A; Arias IM; Chowdhury JR; Chowdhury NR;
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正文语种 eng
中图分类基础医学;
关键词
Codon; Glucuronosyltransferase; Jaundice; Neonatal; Kernicterus; Promoter Regions Genetics genetics; 密码子; 葡糖醛酸基转移酶; 黄疸; 新生儿; 核黄疸;

机译：Codon;Glucuronosyltransferase;Jaundice;Neonatal;Kernicterus;Promoter Regions Genetics genetics;密码子;葡糖醛酸基转移酶;黄疸;新生儿;核黄疸;

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1. Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. [J] . Kadakol A, Sappal BS, Ghosh SS, Journal of Medical Genetics . 2001,第4期

机译：UGT1A1基因的编码区突变和吉尔伯特型启动子异常的相互作用导致中等程度的未结合的高胆红素血症，并可能导致新生儿角膜炎。
2. Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia [J] . Clinical Biochemistry . 2013,第1a2期

机译：新生儿非共轭高胆红素血症患儿UDP-葡萄糖醛酸转移酶（UGT1A1）基因新突变的鉴定
3. Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia [J] . Clinical Biochemistry . 2013,第1a2期

机译：鉴定新生儿未经舒适的高胆管素血症儿童UDP-葡萄糖蛋白酶基因（UGT1A1）基因的新突变
4. 11 nowel Mutations in the Factor VIII encoding Gene lead to sewere or moderate Hemophilia A [C] . C. Uen, N. Klopp, J. Oldenburg, Hemophilie-Symposion . 2003

机译：11因子VIII编码基因的NOEL突变导致污水或中度血友病A.
5. Variable regions of two human anti-DNA antibodies expressing nephritogenic idiotypes are encoded by germline Vh and Vl genes without somatic mutation [D] . 平林泰彦 1992

机译：表达肾原性独特型的两种人类抗DNA抗体的可变区由种系Vh和Vl基因编码，无体细胞突变
6. Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus [O] . A. KADAKOL, B. SAPPAL, S. GHOSH, 2001

机译：UGT1A1基因的编码区突变和吉尔伯特型启动子异常的相互作用导致中等程度的未结合的高胆红素血症并可能导致新生儿角化
7. Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus [O] . KADAKOL, A., SAPPAL, B., GHOSH, S., 2001

机译：UGT1A1基因的编码区突变和吉尔伯特型启动子异常的相互作用导致中等程度的未结合的高胆红素血症，并可能导致新生儿角化

Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

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