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Genética(2)
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
ArticleAbstract: Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism causedPalabras claves:Ecuadorian GALT mutation, GALACTOSEMIA, HRM, In silico study, Inborn error of galactose metabolism, Splicing mutationAutores:C. Barba, Casique L., M. De Lucca, Marisel De LuccaFuentes: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