Associated Papers
Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.
Bilyalova A et al.
Frontiers in Neurology, 2024
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA et al.
Orphanet Journal of Rare Diseases, 2023
Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
Fernandes MJ et al.
The Journal of Biological Chemistry, 1997
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