title: A GPHN point mutation leading to molybdenum cofactor deficiency.
authors: J
authors: J
authors: Reiss
authors: U
authors: U
authors: Lenz
authors: C
authors: C
authors: Aquaviva-Bourdain
authors: S
authors: S
authors: Joriot-Chekaf
authors: K
authors: K
authors: Mention-Mulliez
authors: M
authors: M
authors: Holder-Espinasse
mesh_terms: D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D008983:Molybdoferredoxin / Q000235:genetics; D017354:Point Mutation; D016415:Sequence Alignment
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D008983:Molybdoferredoxin; C073441:gephyrin