title: Human vitamin D receptor mutations: identification of molecular defects in hypocalcemic vitamin D resistant rickets.
authors.affiliation: Department of Cell Biology, Baylor College of Medicine, Houston, Texas.
authors.forename: M
authors.initials: M
authors.lastname: Hughes
authors.forename: P
authors.initials: P
authors.lastname: Malloy
authors.forename: D
authors.initials: D
authors.lastname: Kieback
authors.forename: D
authors.initials: D
authors.lastname: McDonnell
authors.forename: D
authors.initials: D
authors.lastname: Feldman
authors.forename: J W
authors.initials: JW
authors.lastname: Pike
authors.forename: B
authors.initials: B
authors.lastname: O'Malley
mesh_terms: D000595:Amino Acid Sequence; D002872:Chromosome Deletion; D004351:Drug Resistance; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D006943:Hyperglycemia / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D012279:Rickets / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D014809:Vitamin D-Binding Protein / Q000235:genetics*
chemical_list: D014809:Vitamin D-Binding Protein