Associated Papers
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
Eight novel mutations in the HEXA gene.
McGinniss MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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