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.

Autor: Kleiman FE; Centro de Investigaciones en Química, Biológica de Córdoba-CONICET, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Argentina., de Kremer RD, de Ramirez AO, Gravel RA, Argaraña CE

Publikováno v: Human genetics [Hum Genet] 1994 Sep; Vol. 94 (3), pp. 279-82.