• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.

作者信息

Madsen K M, Hasholt L, Sørensen S A, Fermér M L, Dahl N

机构信息

Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.

出版信息

Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316.

DOI:10.1002/humu.1380050316
PMID:7599642
Abstract
摘要

相似文献

1
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.在六个患有法布里病的丹麦家族的五种不同错义突变中发现了两种新突变（L32P）和（G85N）。
Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316.
2
Five novel mutations in fourteen patients with Fabry Disease.14例法布里病患者中的5种新突变
Hum Mutat. 2000 Feb;15(2):207-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C.
3
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.患有左心室肥厚的男性中的一种非典型法布里病变体。
N Engl J Med. 1995 Aug 3;333(5):288-93. doi: 10.1056/NEJM199508033330504.
4
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.法布里病：α-半乳糖苷酶A基因中的22种新突变以及重度和轻度受累半合子与杂合子的基因型/表型相关性
J Investig Med. 2000 Jul;48(4):227-35.
5
Fabry disease: 20 novel GLA mutations in 35 families.法布里病：35个家系中的20种新的α - 半乳糖苷酶A基因突变
Hum Mutat. 2001 Nov;18(5):459. doi: 10.1002/humu.1219.
6
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.法布里病的分子基础：人类α-半乳糖苷酶A基因的突变与多态性
Hum Mutat. 1994;3(2):103-11. doi: 10.1002/humu.1380030204.
7
The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
Scand J Clin Lab Invest. 1996 Apr;56(2):177-82. doi: 10.3109/00365519609088605.
8
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.法布里病家族中的巨长基底动脉异常伴血栓形成及α-半乳糖苷酶A基因新突变
Brain. 2005 Sep;128(Pt 9):2078-83. doi: 10.1093/brain/awh546. Epub 2005 Jun 9.
9
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.通过变性高效液相色谱法检测导致法布里病的α-半乳糖苷酶A突变
Hum Mutat. 2005 Mar;25(3):299-305. doi: 10.1002/humu.20144.
10
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.法布里病：新型α-半乳糖苷酶A突变的鉴定及通过荧光化学错配切割进行分子携带者检测
Biochem Biophys Res Commun. 1999 Apr 21;257(3):708-13. doi: 10.1006/bbrc.1999.0310.

引用本文的文献

1
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.丹麦法布里病中心的系统性级联筛查：20 年的国家单中心经验。
PLoS One. 2022 Nov 16;17(11):e0277767. doi: 10.1371/journal.pone.0277767. eCollection 2022.
2
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.通过酶切错配分析（ECMA）协议筛选人类基因中的微小改变。
Mol Biotechnol. 2013 Sep;55(1):1-9. doi: 10.1007/s12033-007-0062-9. Epub 2007 Aug 14.
3
Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.
人类α-半乳糖苷酶基因 5'非翻译区单核苷酸多态性对酶活性的影响及其在葡萄牙白种人中的频率。
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S247-53. doi: 10.1007/s10545-008-0818-9. Epub 2008 Nov 3.
4
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.采用酶切错配分析（ECMA）方案筛选人类基因中的微小改变。
Mol Biotechnol. 2007 Nov;37(3):212-9. doi: 10.1007/s12033-007-0065-6. Epub 2007 Aug 3.
5
Structure-function relationships in alpha-galactosidase A.α-半乳糖苷酶A中的结构-功能关系
Acta Paediatr. 2007 Apr;96(455):6-16. doi: 10.1111/j.1651-2227.2007.00198.x.
6
SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.对一个患有非典型法布里病的家族中石蜡包埋组织进行的单链构象多态性分析。
Clin Mol Pathol. 1996 Oct;49(5):M310-2. doi: 10.1136/mp.49.5.m310.