A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

@article{Cao1993ASM,
  title={A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.},
  author={Zheng Mei Cao and Marvin R Natowicz and Michael M. Kaback and Joyce S T Lim-Steele and Elizabeth M. Prence and Deborah Brown and T Chabot and Barbara Triggs-Raine},
  journal={American journal of human genetics},
  year={1993},
  volume={53 6},
  pages={1198-205}
}
Deficient activity of beta-hexosaminidase A (Hex A), resulting from mutations in the HEXA gene, typically causes Tay-Sachs disease. However, healthy individuals lacking Hex A activity against synthetic substrates (i.e., individuals who are pseudodeficient) have been described. Recently, an apparently benign C739-to-T (Arg247Trp) mutation was found among individuals with Hex A levels indistinguishable from those of carriers of Tay-Sachs disease. This allele, when in compound heterozygosity with… CONTINUE READING

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