title: Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
authors.affiliation: Institut für Humangenetik, Universitätsmedizin Göttingen, Germany. jreiss@gwdg.de
authors.forename: Jochen
authors.initials: J
authors.lastname: Reiss
authors.forename: Rita
authors.initials: R
authors.lastname: Hahnewald
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008983:Molybdoferredoxin / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D013466:Sulfurtransferases / Q000235:genetics* / Q000378:metabolism; D035703:Therapies, Investigational
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D008983:Molybdoferredoxin; D009687:Nuclear Proteins; C073441:gephyrin; D013466:Sulfurtransferases; C085585:molybdopterin synthase; D019755:Carbon-Carbon Lyases; C114840:MOCS1 protein, human