Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

J Med Genet. 2005 May;42(5):443-8. doi: 10.1136/jmg.2004.026898.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Binding Sites / genetics
  • Consanguinity
  • DNA Mutational Analysis
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Genes, Recessive
  • Humans
  • Hypoparathyroidism / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Neuropeptides / chemistry
  • Neuropeptides / genetics*
  • Neuropeptides / metabolism
  • Nuclear Proteins
  • Pedigree
  • Transcription Factors

Substances

  • DNA-Binding Proteins
  • GCM2 protein, human
  • Neuropeptides
  • Nuclear Proteins
  • Transcription Factors