A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
Arita
K
K
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
Nanda
A
A
Wessagowit
V
V
Akiyama
M
M
Alsaleh
Q A
QA
McGrath
J A
JA
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*
D018167:Receptors, Calcitriol