1997

1. A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria

   Journal of Lipid Research, Vol. 38, Núm. 11, pp. 2303-2313