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.
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H. Shalev | H. Peretz | D. Levartovsky | A. Lagziel | D. Landau | E. Shani | I. Horn | Meirav Shtauber Naamati