• 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

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.

作者信息

Meaney C, Blanch L C, Morris C P

机构信息

Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.

出版信息

Hum Mol Genet. 1994 Jun;3(6):1019-20. doi: 10.1093/hmg/3.6.1019.

DOI:10.1093/hmg/3.6.1019
PMID:7951217
Abstract
摘要

相似文献

1
A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
Hum Mol Genet. 1994 Jun;3(6):1019-20. doi: 10.1093/hmg/3.6.1019.
2
Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
Ideggyogy Sz. 2012 Jan 30;65(1-2):35-9.
3
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.中国法布里病患者α-半乳糖苷酶A基因新的点突变（S65T）的鉴定。简短突变报道第169号。在线发表。
Hum Mutat. 1998;11(4):328-30. doi: 10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N.
4
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
Hum Mol Genet. 1993 Jul;2(7):1051-3. doi: 10.1093/hmg/2.7.1051.
5
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.法布里病中α-半乳糖苷酶A基因8个新突变的检测
Hum Mol Genet. 1994 Apr;3(4):667-9. doi: 10.1093/hmg/3.4.667.
6
New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
Hum Mutat. 1995;6(2):186-7. doi: 10.1002/humu.1380060214.
7
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.仅表现为肾病的非典型法布里病α-半乳糖苷酶A基因中的点突变。
Clin Nephrol. 1996 May;45(5):289-94.
8
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Hum Genet. 1995 May;95(5):557-61. doi: 10.1007/BF00223869.
9
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Hum Mutat. 1998;Suppl 1:S139-40. doi: 10.1002/humu.1380110147.
10
Mutation analysis in 11 French patients with Fabry disease.
Hum Mutat. 1998;Suppl 1:S288-90. doi: 10.1002/humu.1380110190.

引用本文的文献

1
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.长读测序可实现法布瑞氏病的全面分子遗传学诊断。
Hum Genomics. 2024 Nov 28;18(1):133. doi: 10.1186/s40246-024-00697-3.
2
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.293 例俄罗斯致病变异体 Fabry 病患者的基因型-表型相关性。
Genes (Basel). 2023 Oct 28;14(11):2016. doi: 10.3390/genes14112016.
3
Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.法布里病四个家系的临床评估、准确诊断与治疗
Front Pediatr. 2023 Feb 15;11:1057014. doi: 10.3389/fped.2023.1057014. eCollection 2023.
4
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the gene.通过该基因的甲基化研究对女性法布里病进行未来的临床和生化预测。
Mol Genet Metab Rep. 2019 Jul 24;20:100497. doi: 10.1016/j.ymgmr.2019.100497. eCollection 2019 Sep.
5
Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.法布里病神经精神症状及脑结构变化的八年随访
PLoS One. 2015 Sep 4;10(9):e0137603. doi: 10.1371/journal.pone.0137603. eCollection 2015.
6
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.从阿加糖酶α转换为阿加糖酶β作为法布里病的酶替代疗法后血浆葡萄糖神经酰胺水平的降低。
JIMD Rep. 2016;25:95-106. doi: 10.1007/8904_2015_483. Epub 2015 Aug 25.
7
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.参加一项随机临床试验的初治男性儿科法布里病患者早期疾病状态的特征分析。
PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.
8
Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease.在法布里病的人诱导多能干细胞衍生心肌细胞模型中有效清除GL-3
J Inherit Metab Dis. 2014 Nov;37(6):1013-22. doi: 10.1007/s10545-014-9724-5. Epub 2014 May 22.
9
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.早期肾病的杂合子法布里病女性患者的肾活检结果。
Virchows Arch. 2008 Oct;453(4):329-38. doi: 10.1007/s00428-008-0653-2. Epub 2008 Sep 4.
10
Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.法布里病中人类心肌细胞的肌丝降解与功能障碍。
Am J Pathol. 2008 Jun;172(6):1482-90. doi: 10.2353/ajpath.2008.070576. Epub 2008 May 8.