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. 1993 Aug;53(2):537–539.

Distribution of a pseudodeficiency allele among Tay-Sachs carriers.

J Tomczak, C Boogen, E E Grebner
PMCID: PMC1682345  PMID: 8328470

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Grebner E. E., Tomczak J. Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers. Am J Hum Genet. 1991 Mar;48(3):604–607. [PMC free article] [PubMed] [Google Scholar]
  2. Triggs-Raine B. L., Akerman B. R., Clarke J. T., Gravel R. A. Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet. 1991 Nov;49(5):1041–1054. [PMC free article] [PubMed] [Google Scholar]
  3. Triggs-Raine B. L., Feigenbaum A. S., Natowicz M., Skomorowski M. A., Schuster S. M., Clarke J. T., Mahuran D. J., Kolodny E. H., Gravel R. A. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. N Engl J Med. 1990 Jul 5;323(1):6–12. doi: 10.1056/NEJM199007053230102. [DOI] [PubMed] [Google Scholar]
  4. Triggs-Raine B. L., Mules E. H., Kaback M. M., Lim-Steele J. S., Dowling C. E., Akerman B. R., Natowicz M. R., Grebner E. E., Navon R., Welch J. P. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet. 1992 Oct;51(4):793–801. [PMC free article] [PubMed] [Google Scholar]

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