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Human Mutation|October 30, 2010
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2Jochen Reiss, Rita HahnewaldGenetic Vaccines and Therapy|June 23, 2009
AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency modelRita Hahnewald, Waja Wegner, Jochen ReissMolecular Genetics and Metabolism|June 2, 2006
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthaseRita Hahnewald, Silke Leimkühler, Antonia Vilaseca, et al.Human Genetics|July 16, 2005
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 synthaseSilke Leimkühler, Mathilde Charcosset, Philippe Latour, et al.Pageof 1