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.
Molecular genetics and metabolism - 1 May 2007
Peretz Hava, Naamati Meirav Shtauber, Levartovsky David, Lagziel Ayala, Shani Esther, Horn Ivona, Shalev Hanna, Landau Daniel
Abstract excerpt
Classical xanthinuria type II is an autosomal recessive disorder characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase activities due to lack of a common sulfido-olybdenum cofactor (MoCo). Two mutations, both in the N-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS), were reported in patients with type II xanthinuria. Whereas the N-terminal domain of HMCS was demonstrated to...
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