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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.
Biomedicines. 2021 Jul 7;9(7):788. doi: 10.3390/biomedicines9070788.
Biomedicines. 2021.
PMID: 34356852
Free PMC article.
Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.
Peretz H, Naamati MS, Levartovsky D, Lagziel A, Shani E, Horn I, Shalev H, Landau D.
Peretz H, et al. Among authors: naamati ms.
Mol Genet Metab. 2007 May;91(1):23-9. doi: 10.1016/j.ymgme.2007.02.005. Epub 2007 Mar 23.
Mol Genet Metab. 2007.
PMID: 17368066
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