A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets

Molecular Genetics and Metabolism

Volumn 73, Issue 2, 2001, Pages 138-148

  Malloy, Peter J ^a   Zhu, Wenjing ^a   Zhao, Xiao Yan ^a   Pehling, Gregory B ^b   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GUNDERSEN LUTHERAN MEDICAL CENTER   (United States)

Author keywords

Alopecia; Calcitriol; Rickets; Vitamin D receptor

Indexed keywords

CALCITRIOL; MESSENGER RNA; MUTANT PROTEIN; RETINOID X RECEPTOR; VITAMIN D RECEPTOR;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; DIMERIZATION; DNA SEQUENCE; DOSE RESPONSE; GENE MUTATION; HUMAN; LIGAND BINDING; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; RECEPTOR AFFINITY; SEQUENCE ANALYSIS; SKIN FIBROBLAST; TEMPERATURE DEPENDENCE; TRANSACTIVATION; VITAMIN D RESISTANT RICKETS; WESTERN BLOTTING;

EID: 0034975221     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3181     Document Type: Article

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