A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 9, 2010, Pages 4176-4183

  Alzahrani, Ali S ^a   Zou, Minjing ^a   Baitei, Essa Y ^a   Alshaikh, Omalkhaire M ^a   Al Rijjal, Roua A ^a   Meyer, Brian F ^a   Shi, Yufei ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CALCIDIOL 1 MONOOXYGENASE; CALCITRIOL; CALCIUM; CALCIUM CARBONATE; CYTOCHROME P450; CYTOCHROME P450 27B1; GLUTAMIC ACID; GLYCINE; UNCLASSIFIED DRUG; VITAMIN D;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ALLELE; ANIMAL CELL; ARTICLE; CALCIUM URINE LEVEL; CHILD; CLINICAL ARTICLE; CODON; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; MALE; MISSENSE MUTATION; NONHUMAN; PARENT; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RICKETS; SAUDI ARABIA; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; VITAMIN D DEFICIENCY; VITAMIN D DEPENDENT RICKETS TYPE 1; WILD TYPE; CASE REPORT; CONSANGUINITY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; POINT MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FAMILY; FEMALE; GLUTAMIC ACID; GLYCINE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; RICKETS; VITAMIN D; YOUNG ADULT;

EID: 77956574724     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2278     Document Type: Article

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