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

Autor: Peretz, Hava, Naamati, Meirav Shtauber, Levartovsky, David, Lagziel, Ayala, Shani, Esther, Horn, Ivona, Shalev, Hanna, Landau, Daniel
Zdroj: In Molecular Genetics and Metabolism 2007 91(1):23-29
Databáze: ScienceDirect