A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

Deficiency of β-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We analyzed the HEXA gene of one pseudodeficient subject and...

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Hlavní autoři: Triggs-Raine, B. L., Mules, E. H., Kaback, M. M., Lim-Steele, J. S. T., Dowling, C. E., Akerman, B. R., Natowicz, M. R., Grebner, E. E., Navon, R., Welch, J. P., Greenberg, C. R., Thomas, G. H., Gravel, R. A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682803/
https://ncbi.nlm.nih.gov/pubmed/1384323
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