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

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 <i>XDH</i> (type I) or <i>MOCOS</i> (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997...

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Bibliographic Details
Main Authors: Hava Peretz, Ayala Lagziel, Florian Bittner, Mustafa Kabha, Meirav Shtauber-Naamati, Vicki Zhuravel, Sali Usher, Steffen Rump, Silke Wollers, Bettina Bork, Hanna Mandel, Tzipora Falik-Zaccai, Limor Kalfon, Juergen Graessler, Avraham Zeharia, Nasser Heib, Hannah Shalev, Daniel Landau, David Levartovsky
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Biomedicines
Subjects:
xanthinuria
<i>XDH</i>
<i>MOCOS</i>
heterologous protein expression
Yemenite Jews
Arabs
Online Access:https://www.mdpi.com/2227-9059/9/7/788

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https://www.mdpi.com/2227-9059/9/7/788

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