Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth...

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Detalles Bibliográficos
Autores principales: Peretz, Hava, Lagziel, Ayala, Bittner, Florian, Kabha, Mustafa, Shtauber-Naamati, Meirav, Zhuravel, Vicki, Usher, Sali, Rump, Steffen, Wollers, Silke, Bork, Bettina, Mandel, Hanna, Falik-Zaccai, Tzipora, Kalfon, Limor, Graessler, Juergen, Zeharia, Avraham, Heib, Nasser, Shalev, Hannah, Landau, Daniel, Levartovsky, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301430/
https://www.ncbi.nlm.nih.gov/pubmed/34356852
http://dx.doi.org/10.3390/biomedicines9070788

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