title: Novel human pathological mutations. Gene symbol: NR3C1. Disease: glucocorticoid receptor deficiency.
authors.affiliation: Chemical Pathology, Pathology Queensland, Brisbane, Australia. Carel_Pretorius@health.qld.gov.au
authors.forename: Carel
authors.initials: C
authors.lastname: Pretorius
authors.forename: Sarah K
authors.initials: SK
authors.lastname: McMahon
authors.forename: Jacobus P K
authors.initials: JP
authors.lastname: Ungerer
authors.forename: Nathaniel
authors.initials: N
authors.lastname: Salmon
authors.forename: Louise
authors.initials: L
authors.lastname: Comwell
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Louise
mesh_terms: 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
chemical_list: D003062:Codon; D018388:Codon, Terminator; C497713:NR3C1 protein, human; D009711:Nucleotides; D011965:Receptors, Glucocorticoid