The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

Abstract

A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately… (More)

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@article{McDowell1992ThePO, title={The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.}, author={Gemma McDowell and Emilie H. Mules and P Fabacher and Eyal Shapira and Miriam G Blitzer}, journal={American journal of human genetics}, year={1992}, volume={51 5}, pages={1071-7} }