title: CYP24A1 mutation leading to nephrocalcinosis.
authors.affiliation: Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
authors.forename: Frances E
authors.initials: FE
authors.lastname: Dowen
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Judith A
authors.initials: JA
authors.lastname: Sayers
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Ann M
authors.initials: AM
authors.lastname: Hynes
authors.affiliation: 1] Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK [2] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: Sayer
mesh_terms: D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D065668:Vitamin D3 24-Hydroxylase / Q000235:genetics*
chemical_list: C585549:CYP24A1 protein, human; D065668:Vitamin D3 24-Hydroxylase