Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene-Reference-Cited by-同舟云学术

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene

Published:2011-05-25 Issue:3 Volume:81 Page:224-233
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Ferri L,Guido C,la Marca G,Malvagia S,Cavicchi C,Fiumara A,Barone R,Parini R,Antuzzi D,Feliciani C,Zampetti A,Manna R,Giglio S,Della Valle CM,Wu X,Valenzano KJ,Benjamin ER,Donati MA,Guerrini R,Genuardi M,Morrone A

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01689.x/fullpdf

Reference42 articles.

1. A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.;Vetrie;Genomics,1994

2. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy.;Elleder;Virchows Arch A Pathol Anat Histopathol,1990

3. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.;Frustaci;N Engl J Med,2001

4. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype.;Nakao;Kidney Int,2003

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified;Clinical Genetics;2024-07-18

2. Genome-wide expression analysis in a Fabry disease human podocyte cell line;Heliyon;2024-07

3. Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy;Journal of Clinical Investigation;2023-06-01

4. GLA GENE MUTATION IN PATIENTS WITH FABRY DISEASE;Актуальні проблеми сучасної медицини: Вісник Української медичної стоматологічної академії;2023-05-24

5. D313Y Variant in Fabry Disease;Neurology;2022-11-08