Browsing Ciències de la Salut by Author "Barceló, Ana"
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Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency
Buesa, Carlos; Pié, Juan; Barceló, Ana; Casals i Farré, Núria; Mascaró, Cristina; Casale, César H.; Haro, Diego; Duran, Marinus; Smeitink, Jan A. M.; Hegardt, Fausto G. (Journal of Lipid Research, 1996-11)A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ...