Am J Hum Genet. 1979 Sep;31(5):642-6.

Normal adult with absent HEX A: immunoreactive HEX A is present.

Abstract

Fibroblasts from a normal adult with absent hexosaminidase A (HEX A) activity were demonstrated to possess immunoreactive HEX A as measured by GM2 beta-D-N-acetylgalactosaminidase activity which precipitated with specific anti-HEX A antibodies. Possible explanations for the molecular defect are presented.

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PMCID:: PMC1685922

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