Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 9, 1997, Pages 3156-3160

  Cockerill, Fiona J ^a   Hawa, Nigar S ^a   Yousaf, Nasim ^a   Hewison, Martin ^a   O'Riordan, Jeffrey L H ^a   Farrow, Sheelagh M ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CELL NUCLEUS RECEPTOR; DNA; DNA FRAGMENT; LIGAND; VITAMIN D; VITAMIN D RECEPTOR;

ARTICLE; CASE REPORT; DELETION MUTANT; DNA PROTEIN COMPLEX; ENZYME ACTIVITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; LIGAND BINDING; MALE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RNA SPLICING; SEQUENCE ANALYSIS; SKIN FIBROBLAST; STOP CODON; TRANSACTIVATION; VITAMIN D RESISTANT RICKETS;

EID: 0030883461     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.82.9.4243     Document Type: Article

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