通过基因组扩增子的单链构象多态性分析检测艾杜糖醛酸-2-硫酸酯酶基因中的四个新突变。 - Suppr

Suppr

超能文献

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.

作者信息

Li P, Thompson J N

机构信息

Laboratory of Medical Genetics, University of Alabama at Birmingham 35294, USA.

出版信息

J Inherit Metab Dis. 1996;19(1):93-4. doi: 10.1007/BF01799358.

DOI:10.1007/BF01799358

PMID:8830188

Abstract

摘要

相似文献

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.通过基因组扩增子的单链构象多态性分析检测艾杜糖醛酸-2-硫酸酯酶基因中的四个新突变。

J Inherit Metab Dis. 1996;19(1):93-4. doi: 10.1007/BF01799358.

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.12名西班牙亨特氏病患者艾杜糖醛酸-2-硫酸酯酶基因突变情况

Hum Mutat. 1998;Suppl 1:S66-8. doi: 10.1002/humu.1380110123.

[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese].[中国黏多糖贮积症II型患者艾杜糖醛酸-2-硫酸酯酶基因突变的检测]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Jun;19(3):243-5.

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).II型粘多糖贮积症（亨特综合征）患者艾杜糖醛酸-2-硫酸酯酶基因突变的分子基础

J Med Genet. 1999 Jan;36(1):21-7.

Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.II型黏多糖贮积症：意大利患者中六个新突变的鉴定

Hum Mutat. 1997;10(1):71-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<71::AID-HUMU10>3.0.CO;2-X.

Mutation analysis in 20 patients with Hunter disease.20例亨特氏病患者的突变分析。

Hum Mutat. 1996;7(1):76-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P.

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).12例波兰黏多糖贮积症II型（亨特综合征）患者的艾杜糖醛酸-2-硫酸酯酶基因突变

Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114.

[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].[黏多糖贮积症II型患者艾杜糖醛酸-2-硫酸酯酶基因新突变（G1253T）的检测]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):269-71.

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.五名患有亨特综合征的挪威人的艾杜糖醛酸-2-硫酸酯酶基因突变。

Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265.

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).II型黏多糖贮积症（亨特综合征）患者艾杜糖醛酸-2-硫酸酯酶基因突变分析

Hum Mol Genet. 1992 Aug;1(5):335-9. doi: 10.1093/hmg/1.5.335.

引用本文的文献

Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.哥伦比亚亨特综合征患者IDS基因的深度基因分型

JIMD Rep. 2015;19:101-9. doi: 10.1007/8904_2014_376. Epub 2015 Feb 15.

J Med Genet. 1999 Jan;36(1):21-7.

本文引用的文献

Sequence of the human iduronate 2-sulfatase (IDS) gene.人类艾杜糖醛酸2-硫酸酯酶（IDS）基因序列。

Genomics. 1993 Sep;17(3):773-5. doi: 10.1006/geno.1993.1406.

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.通过自动测序和计算机辅助解读对II型黏多糖贮积症（亨特综合征）进行分子诊断：朝向艾杜糖醛酸-2-硫酸酯酶基因的突变定位

Am J Hum Genet. 1995 Mar;56(3):597-607.

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.亨特综合征的缺陷：艾杜糖醛酸-2-硫酸酯酶缺乏。

Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134-8. doi: 10.1073/pnas.70.7.2134.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验