Molecular analysis of HEXA gene in Argentinean patients affected with Tay–Sachs disease: Possible common origin of the prevalent c.459+5A>G mutation-Reference-Cited by-同舟云学术

Molecular analysis of HEXA gene in Argentinean patients affected with Tay–Sachs disease: Possible common origin of the prevalent c.459+5A>G mutation

Published:2012-05 Issue:2 Volume:499 Page:262-265
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Zampieri Stefania,Montalvo Annalisa,Blanco Mariana,Zanin Irene,Amartino Hernan,Vlahovicek Kristian,Szlago Marina,Schenone Andrea,Pittis Gabriela,Bembi Bruno,Dardis Andrea

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference29 articles.

1. A mutation common in non-Jewish Tay–Sachs disease: frequency and RNA studies;Akerman;Hum. Mutat.,1992

2. Seven novel Tay–Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments;Akli;Genomics,1991

3. Collaborative study of the molecular epidemiology of Tay–Sachs disease in Europe;Akli;Eur. J. Hum. Genet.,1993

4. Synthesis of 4-methylumbelliferyl-beta-d-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes;Bayleran;Clin. Chim. Acta,1984

5. Tay–Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards;Chamoles;Clin. Chim. Acta,2002

Cited by 11 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. GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family;Russian Journal of Genetics;2024-01

2. Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum;Orphanet Journal of Rare Diseases;2023-03-13

3. A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease;Molecular Genetics and Metabolism;2021-07

4. In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay‒Sachs disease;Journal of Genetics;2020-05-15

5. Thirty two novel nsSNPs May effect onHEXAprotein Leading to Tay-Sachs disease (TSD) Using a Computational Approach;2019-09-09