A GPHN point mutation leading to molybdenum cofactor deficiency

Clin Genet. 2011 Dec;80(6):598-9. doi: 10.1111/j.1399-0004.2011.01709.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Sequence
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Metal Metabolism, Inborn Errors / diagnosis
  • Metal Metabolism, Inborn Errors / genetics*
  • Molecular Sequence Data
  • Molybdoferredoxin / genetics
  • Point Mutation*
  • Sequence Alignment

Substances

  • Carrier Proteins
  • Membrane Proteins
  • Molybdoferredoxin
  • gephyrin

Supplementary concepts

  • Molybdenum cofactor deficiency