Article
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Human genetics - 1 Oct 2005
Leimkühler Silke, Charcosset Mathilde, Latour Philippe, Dorche Claude, Kleppe Soledad, Scaglia Fernando, Szymczak Irmina, Schupp Petra, Hahnewald Rita, Reiss Jochen
Abstract excerpt
Molybdenum cofactor deficiency (MIM#252150) is a severe autosomal-recessive disorder with a devastating outcome. The cofactor is the product of a complex biosynthetic pathway involving four different genes (MOCS1, MOCS2, MOCS3 and GEPH). This disorder is caused almost exclusively by mutations in...
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