HEXBHexosaminidase B
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Mutations in both alleles of HEXA result in a deficiency of HEXA, and mutations in both alleles of HEXB result in deficiencies of both HEXA and HEXB.
To identify TSD carriers by use of an enzymatic assay, the combined activities of HEXA and HEXB, as well as the activity of HEXB after heat-inactivation of HEXA, are determined.
6] Nonstandard abbreviations: TSD, Tay-Sachs Disease; HEXA, [beta]-hexosaminidase A; HEXB, [beta]-hexosaminidase B; CI, confidence interval; HEXS, [beta]-hexosaminidase S; SSCP, single-strand conformational polymorphism.