title: Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
authors.affiliation: Department of Endocrinology, Barts & the London, London, UK.
authors.forename: Louise A
authors.initials: LA
authors.lastname: Metherell
authors.forename: Sadani
authors.initials: S
authors.lastname: Cooray
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
authors.forename: Franz
authors.initials: F
authors.lastname: Ruschendorf
authors.forename: Danielle
authors.initials: D
authors.lastname: Naville
authors.forename: Martine
authors.initials: M
authors.lastname: Begeot
authors.forename: Adrian J L
authors.initials: AJ
authors.lastname: Clark
mesh_terms: D000225:Adenine; D002891:Chromosomes, Human, Pair 21; D005938:Glucocorticoids / Q000172:deficiency*; D006147:Guanine; D006720:Homozygote; D006801:Humans; D007438:Introns; D009154:Mutation; D021381:Protein Transport / Q000235:genetics*; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics*; D013941:Thymine
chemical_list: D005938:Glucocorticoids; D006147:Guanine; D000225:Adenine; D013941:Thymine