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  • Title: Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
    Author: Lane AB, Young E, Jenkins T.
    Journal: Am J Hum Genet; 1980 Nov; 32(6):920-6. PubMed ID: 7446530.
    Abstract:
    A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program.
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