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Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins
ArticleAbstract: Cystathionine β-synthase (CBS) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes thePalabras claves:Cystathionine beta-synthase, Homocystinuria, immunocytochemistry, Protein misfoldingAutores:Banerjee R., Casique L., Kabil O., M. De Lucca, Marisel De Lucca, Martínez J.C.Fuentes:googlescopusImproving phenylketonuria genotyping by screening for the IVS4 + 5g > t mutation in the PAH gene
OtherAbstract:Palabras claves:Autores:Araujo K., Arias I., Casique L., M. De Lucca, Merzon R.M.Fuentes:scopus