title: Novel human pathological mutations. Gene symbol: MC2R. Disease: glucocorticoid deficiency.
authors.affiliation: Pathology and Laboratory Medicine, All Childrens Hospital, Saint Petersburg, FL 33701, USA.
authors.forename: O Thomas
authors.initials: OT
authors.lastname: Mueller
authors.forename: A
authors.initials: A
authors.lastname: Coovadia
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D005938:Glucocorticoids / Q000172:deficiency*; D006579:Heterozygote; D006801:Humans; D044103:Receptor, Melanocortin, Type 2 / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D005938:Glucocorticoids; D044103:Receptor, Melanocortin, Type 2