Associated Papers
Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.
Khalilian S et al.
Biochemical Genetics, 2025
Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.
Karataş MÇ et al.
Archivos Argentinos De Pediatria, 2022
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M et al.
Journal of Human Genetics, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
Karpati M et al.
Neurogenetics, 2004
At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
Ozkara HA et al.
Molecular Genetics and Metabolism, 1998
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