Novel human pathological mutations. Gene symbol: NR3C1. Disease: glucocorticoid receptor deficiency.
Pretorius
Carel
C
Chemical Pathology, Pathology Queensland, Brisbane, Australia. Carel_Pretorius@health.qld.gov.au
McMahon
Sarah K
SK
Ungerer
Jacobus P K
JP
Salmon
Nathaniel
N
Comwell
Louise
L
Louise
Jennifer A
JA
D001483:Base Sequence; D002648:Child; D003062:Codon; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics*; D011965:Receptors, Glucocorticoid / Q000172:deficiency* / Q000235:genetics
D003062:Codon; D018388:Codon, Terminator; C497713:NR3C1 protein, human; D009711:Nucleotides; D011965:Receptors, Glucocorticoid