Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
Baumber
L
L
Tufarelli
C
C
Patel
S
S
King
P
P
Johnson
C A
CA
Maher
E R
ER
Trembath
R C
RC
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
D004268:DNA-Binding Proteins; C119532:GCM2 protein, human; D009479:Neuropeptides; D009687:Nuclear Proteins; D014157:Transcription Factors