Functional studies of new GLA gene mutations leading to conformational fabry disease-Reference-Cited by-同舟云学术

Functional studies of new GLA gene mutations leading to conformational fabry disease

Published:2010-02 Issue:2 Volume:1802 Page:247-252
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Filoni C.,Caciotti A.,Carraresi L.,Cavicchi C.,Parini R.,Antuzzi D.,Zampetti A.,Feriozzi S.,Poisetti P.,Garman S.C.,Guerrini R.,Zammarchi E.,Donati M.A.,Morrone A.

Funder

NIH

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference27 articles.

1. Fabry disease: α-galactosidase A deficiency;Desnick,2001

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

3. An atypical variant of Fabry's disease in men with left ventricular hypertrophy;Nakao;N. Engl. J. Med.,1995

4. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes;Whybra;J. Inherit. Metab. Dis.,2001

5. Nucleotide sequence of the human alpha-galactosidase A gene;Kornreich;Nucleic Acids Res.,1989

Cited by 45 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. Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo;Brazilian Journal of Nephrology;2023-12

2. Perfil genético e fenotípico da doença de Fabry na população do Vale do Paraíba e Zona Leste de São Paulo;Brazilian Journal of Nephrology;2023-12

3. The evolution of the initial manifestations and renal involvement of chinese patients with classical and late-onset Fabry disease at different sexes and ages;BMC Nephrology;2023-04-05

4. High-expression of Galactosidase alpha is correlated with poor prognosis and immune infiltration in low-grade glioma;Journal of Cancer;2023

5. Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations;International Journal of Molecular Sciences;2022-12-03