Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
Kleiman FE, de Kremer RD, de Ramirez AO, Gravel RA, Argara?a CE. Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection. Hum Genet. 1994 Sep; 94(3):279-82.