Listando por autor/a "Zapater, Núria"
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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
Casals i Farré, Núria; Pié, Juan; Casale, César H.; Zapater, Núria; Ribes, Antònia; Castro-Gago, Manuel; Rodriguez-Segade, Santiago; Wanders, Ronald J. R.; Hegardt, Fausto G. (Journal of Lipid Research, 1997)A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...