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A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

机译：CYP11B1基因新型复合杂合突变致11β-羟化酶缺乏症的中国患者1例

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摘要

BackgroundCongenital adrenal hyperplasia (CAH) resulting from steroid 11β-hydroxylase deficiency (11β-OHD) is caused by mutations in the CYP11B1 gene. It is the second major form of CAH associated with hypertension and hypopotassemia. The aim of this study was to provide a genetic analysis of 11β-OHD in a Chinese family.

机译：背景由类固醇11β-羟化酶缺乏症（11β-OHD）引起的先天性肾上腺增生（CAH）是由CYP11B1基因突变引起的。它是与高血压和低钾血症相关的CAH的第二种主要形式。这项研究的目的是提供一个中国家庭中11β-OHD的遗传分析。

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期刊名称 BMC Endocrine Disorders
作者
Xianxian Yuan; Lin Lu; Shi Chen; Jun Jiang; Xiangqing Wang; Zhihui Liu; Huijuan Zhu; Hui Pan; Zhaolin Lu;
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作者单位

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年(卷),期 2018(18),-1
年度 2018
页码 68
总页数 6
原文格式 PDF
正文语种
中图分类基础医学;
关键词
11β-hydroxylase deficiency CYP11B1 gene mutation Iatrogenic Cushing’s syndrome;

机译：11β-羟化酶缺乏症;CYP11B1基因突变;医源性库欣综合征;

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专利

1. A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report [J] . Xianxian Yuan, Lin Lu, Shi Chen, BMC Endocrine Disorders . 2018,第1期

机译：CYP11B1基因新型复合杂合突变致11β-羟化酶缺乏症的中国患者1例
2. Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11 beta-hydroxylase deficiency [J] . Wang Xiaojing, Nie Min, Lu Lin, Steroids: An International Journal . 2015,第Null期

机译：中国11例β-羟化酶缺乏症患者的七个新CYP11B1基因突变的鉴定
3. A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency [J] . The Journal of Steroid Biochemistry and Molecular Biology . 2013,第1期

机译：CYP11B1基因在中国11-β羟化酶缺乏症患者中普遍存在和三个新突变
4. Investigation of Underlying Reasons of Factor VIM Deficiency in Hemophilia A Patients with Undetectable Mutations in the F8 Gene [C] . O.El-Maarri, C.Klein, J.Schroder, Hemophilia Symposium . 2008

机译：血友病因子vim缺乏症患者F8基因患者
5. Development of T cell immunity to Listeria monocytogenes and Mycobacterium tuberculosis-dendritic cells as an "Achilles' Heel" and immune deficiency in dopamine beta-hydroxylase knock-out mice. [D] . Alaniz, Robert Christopher. 2002

机译：T细胞对单核细胞增生性李斯特菌和结核分枝杆菌树突状细胞的免疫性发展为“致命弱点”，多巴胺β-羟化酶敲除小鼠免疫缺陷。
6. A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene [O] . Chrisanthi Marakaki, Anna Papadopoulou, Olga Karapanou, 2015

机译：一个希腊女孩由于复合杂合性而导致CYP11B1基因的两个新突变具有11β-羟化酶缺陷
7. A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report [O] . Xianxian Yuan, Lin Lu, Shi Chen, 2018

机译：CYP11B1基因新化合物杂合酶突变引起的11β-羟化酶缺乏的中国患者：案例报告

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

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