Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function

Endocrinology

Volumn 145, Issue 11, 2004, Pages 5106-5114

  Malloy, Peter J ^a   Xu, Rong ^a   Peng, Lihong ^a   Peleg, Sara ^b   Al Ashwal, Abdullah ^c   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

20 EPICALCITRIOL; CALCITRIOL; CALCIUM; ISOLEUCINE; PHOSPHATE; PROTEINASE; RETINOID X RECEPTOR; THREONINE; VITAMIN D RECEPTOR;

ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONTROLLED STUDY; CRYSTALLOGRAPHY; DIMERIZATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LIGAND BINDING; PRIORITY JOURNAL; RICKETS; SAUDI ARABIA; TRANSACTIVATION;

ALOPECIA; ANIMALS; BINDING SITES; CALCITRIOL; CALCIUM CHANNEL AGONISTS; COS CELLS; DIMERIZATION; DRUG RESISTANCE; FEMALE; GENOTYPE; HUMANS; INFANT; PEPTIDE HYDROLASES; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CALCITRIOL; RETINOID X RECEPTORS; RICKETS; TRANS-ACTIVATION (GENETICS);

EID: 9244223555     PISSN: 00137227     EISSN: None     Source Type: Journal    
DOI: 10.1210/en.2004-0080     Document Type: Article

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