Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Suppr

超能文献

作者信息

Crotty P L, Braun S E, Anderson R A, Whitley C B

机构信息

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455.

出版信息

Hum Mol Genet. 1992 Dec;1(9):755-7. doi: 10.1093/hmg/1.9.755.

DOI:10.1093/hmg/1.9.755

PMID:1284597

Abstract

摘要

相似文献

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Hum Mol Genet. 1992 Dec;1(9):755-7. doi: 10.1093/hmg/1.9.755.

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

Hum Mutat. 1995;5(3):272-4. doi: 10.1002/humu.1380050314.

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.II型黏多糖贮积症基因型与表型相关性的注意事项：艾杜糖醛酸-2-硫酸酯酶基因R468W和R468Q突变的临床严重程度不一致

Hum Mutat. 1993;2(3):235-7. doi: 10.1002/humu.1380020313.

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.

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.

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).亨特综合征（II型黏多糖贮积症）中艾杜糖醛酸-2-硫酸酯酶mRNA表达的评估

Hum Genet. 1992 Nov;90(3):285-8. doi: 10.1007/BF00220080.

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.

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Hum Mol Genet. 1993 Nov;2(11):1871-5. doi: 10.1093/hmg/2.11.1871.

A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x.

Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene.

Biochem Mol Biol Int. 1995 May;35(6):1299-305.

引用本文的文献

Identification and Functional Characterization of Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).鉴定和功能表征台湾地区亨特综合征（黏多糖贮积症 II 型）相关基因突变。

Int J Mol Sci. 2019 Dec 23;21(1):114. doi: 10.3390/ijms21010114.

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS.用于黏多糖贮积症的细胞和基因疗法：碱基编辑及向中枢神经系统的治疗性递送

Diseases. 2019 Jun 26;7(3):47. doi: 10.3390/diseases7030047.

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.菲律宾黏多糖贮积症II型——亨特综合征患者的临床、生化及分子特征

Orphanet J Rare Dis. 2017 Jan 11;12(1):7. doi: 10.1186/s13023-016-0558-0.

Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.罗马尼亚II型黏多糖贮积症患者的临床和遗传特征

JIMD Rep. 2017;33:19-25. doi: 10.1007/8904_2016_535. Epub 2016 Jun 29.

Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.对 38 名亨特综合征患者的 IDS 基因进行分析：女性个体中的 c.879G>A（p.Gln293Gln）同义变异导致外显子剪接。

PLoS One. 2011;6(8):e22951. doi: 10.1371/journal.pone.0022951. Epub 2011 Aug 4.

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.亨特氏病（II型黏多糖贮积症）突变对艾杜糖醛酸-2-硫酸酯酶分子表型的影响：酶活性、蛋白质加工及结构分析

J Inherit Metab Dis. 2006 Dec;29(6):755-61. doi: 10.1007/s10545-006-0440-7. Epub 2006 Nov 7.

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Hum Genet. 2005 Feb;116(3):160-6. doi: 10.1007/s00439-004-1234-3. Epub 2004 Dec 22.

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.

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

J Inherit Metab Dis. 1998 Feb;21(1):60-70. doi: 10.1023/a:1005363414792.

Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.α-L-艾杜糖醛酸酶假性缺陷的分子遗传学缺陷

Am J Hum Genet. 1996 Jan;58(1):75-85.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验