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Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

OBJECTIVES: Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase...

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Detalles Bibliográficos
Autores principales:	Collazo Abal, Cristina, Romero Santos, Susana, González Mao, Carmen, Pazos Lago, Emilio C., Barros Angueira, Francisco, Castiñeiras Ramos, Daisy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter 2021
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197278/ https://www.ncbi.nlm.nih.gov/pubmed/37360896 http://dx.doi.org/10.1515/almed-2021-0018

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