An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt

Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underlie classical xanthinuria type I and type II, respectively. H...

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Detalles Bibliográficos
Autores principales: Peretz, Hava, Korostishevsky, Michael, Steinberg, David M., Kabha, Mustafa, Usher, Sali, Krause, Irit, Shalev, Hannah, Landau, Daniel, Levartovsky, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012738/
https://www.ncbi.nlm.nih.gov/pubmed/32071838
http://dx.doi.org/10.1002/jmd2.12077

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