title: Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
authors.forename: L
authors.initials: L
authors.lastname: Baumber
authors.forename: C
authors.initials: C
authors.lastname: Tufarelli
authors.forename: S
authors.initials: S
authors.lastname: Patel
authors.forename: P
authors.initials: P
authors.lastname: King
authors.forename: C A
authors.initials: CA
authors.lastname: Johnson
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
authors.forename: R C
authors.initials: RC
authors.lastname: Trembath
mesh_terms: D000595:Amino Acid Sequence; D001665:Binding Sites / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009479:Neuropeptides / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins; D010375:Pedigree; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; C119532:GCM2 protein, human; D009479:Neuropeptides; D009687:Nuclear Proteins; D014157:Transcription Factors