Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

Molecular Genetics and Metabolism

Volumn 111, Issue 1, 2014, Pages 33-40

  Malloy, Peter J ^a   Tasic, Velibor ^b   Taha, Doris ^c   Tütüncüler, Filiz ^d   Ying, Goh Siok ^e   Yin, Loke Kah ^e   Wang, Jining ^a   Feldman, David ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^c CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^d TRAKYA UNIVERSITY   (Turkey)

^e NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

HVDRR; Hypocalcemia; Mutations; Rickets; Vitamin D; Vitamin D receptor

Indexed keywords

ALFACALCIDOL; ALKALINE PHOSPHATASE; AMINO ACID; CALCITRIOL; CALCIUM; COMPLEMENTARY DNA; CREATININE; GLUCONATE CALCIUM; VITAMIN D; VITAMIN D RECEPTOR; COLECALCIFEROL 24 HYDROXYLASE; PHOSPHATE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ALOPECIA; ANIMAL CELL; ARTICLE; BONE RADIOGRAPHY; CALCIUM BLOOD LEVEL; CALCIUM EXCRETION; CALCIUM URINE LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DNA SEQUENCE; DNA SPLICING; DRUG MEGADOSE; EXON; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; GENE DELETION; HUMAN; HYPOCALCEMIA; KIDNEY CELL; MACEDONIA (REPUBLIC); MALE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SAUDI ARABIA; SINGAPORE; TRANSACTIVATION; TURKEY (REPUBLIC); URINARY EXCRETION; VITAMIN BLOOD LEVEL; VITAMIN SUPPLEMENTATION; AMINOACIDURIA; BONE DENSITY; CHINESE; CONSANGUINEOUS MARRIAGE; DRUG DOSE INCREASE; EPIPHYSIS; FOLLOW UP; FRONTAL BOSSING; GENE EXPRESSION; IMMUNOBLOTTING; INDIAN; KIDNEY CALCIFICATION; LOW DRUG DOSE; MOTOR RETARDATION; MUSCLE STRENGTH; NONSENSE MUTATION; OSTEOPENIA; PNEUMONIA; RESPIRATORY FAILURE; SHORT STATURE; TOOTH ERUPTION; TOOTH EXTRACTION; VALGUS KNEE; WEIGHT BEARING;

HVDRR; HYPOCALCEMIA; MUTATIONS; RICKETS; VITAMIN D; VITAMIN D RECEPTOR;

ANIMALS; BINDING SITES; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; CODON, NONSENSE; COS CELLS; EXONS; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; RECEPTORS, CALCITRIOL; VITAMIN D;

EID: 84891827932     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.10.014     Document Type: Article

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