Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.

Source:http://linkedlifedata.com/resource/pubmed/id/9169471

J. Biol. Chem. 1997 Jun 6 272 23 14975-82

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9169471