A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

Suppr

超能文献

作者信息

Moskowitz S M, Tieu P T, Neufeld E F

机构信息

Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024-1737.

出版信息

Hum Mutat. 1993;2(1):71-3. doi: 10.1002/humu.1380020113.

DOI:10.1002/humu.1380020113

PMID:8477267

Abstract

摘要

相似文献

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).

Hum Mutat. 1993;2(1):71-3. doi: 10.1002/humu.1380020113.

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

Hum Mutat. 1994;3(3):333-6. doi: 10.1002/humu.1380030330.

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).四种导致轻度或中度α-L-艾杜糖醛酸酶缺乏症（MPS IS和MPS IH/S）的新突变。

Hum Mutat. 1995;6(1):55-9. doi: 10.1002/humu.1380060111.

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.I型黏多糖贮积症的分子遗传学：诊断、临床及生物学意义

Hum Mutat. 1995;6(4):288-302. doi: 10.1002/humu.1380060403.

[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].11例中国黏多糖贮积症Ⅰ型轻型患者的突变分析

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):147-51. doi: 10.3760/cma.j.issn.1003-9406.2011.02.006.

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.I型黏多糖贮积症：α-L-艾杜糖醛酸酶基因13种新突变的鉴定

Hum Mutat. 1995;6(1):91-4. doi: 10.1002/humu.1380060119.

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.在具有提前终止等位基因的Hurler成纤维细胞中，编码α-L-艾杜糖醛酸酶的mRNA发生降解的证据。

Cell Mol Biol (Noisy-le-grand). 1994 Nov;40(7):999-1005.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.接受酶替代疗法的黏多糖贮积症 I 型患者中存在的 α-L-艾杜糖醛酸酶突变的鉴定及分子特征分析

Hum Mutat. 2004 Sep;24(3):199-207. doi: 10.1002/humu.20081.

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.

Hum Mutat. 1993;2(2):141-4. doi: 10.1002/humu.1380020215.

[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I].[一名I型黏多糖贮积症患者中α-L-艾杜糖醛酸酶基因的新型突变]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):136-9.

引用本文的文献

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.黏多糖贮积症 I 型：突尼斯三个家族中的α-L-艾杜糖醛酸酶突变

J Inherit Metab Dis. 2005;28(6):1019-26. doi: 10.1007/s10545-005-0197-4.

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.

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.一个家族中因雄激素受体基因外显子5发生新型插入/缺失突变而出现的极端雄激素抵抗。

J Hum Genet. 2003;48(7):346-51. doi: 10.1007/s10038-003-0036-0. Epub 2003 Jun 7.

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.

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.以色列德鲁兹族和穆斯林阿拉伯患者中Hurler综合征的分子分析：小地理区域内艾杜糖醛酸酶（IDUA）基因的多个等位基因突变

Am J Hum Genet. 1993 Aug;53(2):330-8.

Enzyme replacement in a canine model of Hurler syndrome.在黏多糖贮积症I型犬模型中的酶替代疗法。

Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12937-41. doi: 10.1073/pnas.91.26.12937.

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.当细胞失去正常功能时：无义密码子对脊椎动物细胞RNA代谢的影响。

RNA. 1995 Jul;1(5):453-65.

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