Associated Papers
Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.
Hung JE et al.
Molecular Therapy. Nucleic Acids, 2025
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
Cao Z et al.
The Journal of Biological Chemistry, 1997
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
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