A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family

Article

Abstract: Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused

Palabras claves:

Ecuadorian GALT mutation, GALACTOSEMIA, HRM, In silico study, Inborn error of galactose metabolism, Splicing mutation

Autores:

C. Barba, Casique L., M. De Lucca, Marisel De Lucca

Fuentes:

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scopus