title: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
abstract: A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation.
authors.affiliation: Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
authors.forename: R C
authors.initials: RC
authors.lastname: Wilson
authors.forename: Z S
authors.initials: ZS
authors.lastname: Krozowski
authors.forename: K
authors.initials: K
authors.lastname: Li
authors.forename: V R
authors.initials: VR
authors.lastname: Obeyesekere
authors.forename: M
authors.initials: M
authors.lastname: Razzaghy-Azar
authors.forename: M D
authors.initials: MD
authors.lastname: Harbison
authors.forename: J Q
authors.initials: JQ
authors.lastname: Wei
authors.forename: C H
authors.initials: CH
authors.lastname: Shackleton
authors.forename: J W
authors.initials: JW
authors.lastname: Funder
authors.forename: M I
authors.initials: MI
authors.lastname: New
mesh_terms: D042842:11-beta-Hydroxysteroid Dehydrogenases; D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon; D003241:Consanguinity; D017931:DNA Primers; D005260:Female; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D008901:Mineralocorticoids / Q000097:blood*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D003062:Codon; D017931:DNA Primers; D007527:Isoenzymes; D008901:Mineralocorticoids; D006913:Hydroxysteroid Dehydrogenases; D042842:11-beta-Hydroxysteroid Dehydrogenases