title: A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
authors.affiliation: Genetic Skin Disease Group, St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, The Guy's, King's College and St Thomas' School of Medicine, London, UK. ken.arita@kcl.ac.uk
authors.forename: K
authors.initials: K
authors.lastname: Arita
authors.forename: A
authors.initials: A
authors.lastname: Nanda
authors.forename: V
authors.initials: V
authors.lastname: Wessagowit
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: Q A
authors.initials: QA
authors.lastname: Alsaleh
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000505:Alopecia / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D030541:Databases, Genetic; D003638:Deafness / Q000235:genetics; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D018167:Receptors, Calcitriol / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol