A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Triggs-Raine BL, Mules EH, Kaback MM, Lim-Steele JS, Dowling CE, Akerman BR, Natowicz MR, Grebner EE, Navon R, Welch JP. Am J Hum Genet. 1992 Oct; 51(4):793-801.