Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type i

Hormone Research in Paediatrics

Volumn 85, Issue 5, 2016, Pages 309-317

  Tahir, Sophia ^a   Demirbilek, Hüseyin ^a,b   Ozbek, Mehmet Nuri ^b,c   Baran, Riza Taner ^b   Tanriverdi, Sibel ^c   Hussain, Khalid ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b Diyarbakir Children's State Hospital   (Turkey)

^c Diyarbakir Training and Research Hospital ^*  (Turkey)

Author keywords

CYP27B1 gene; Hypocalcaemia; Vitamin D; Vitamin D dependent rickets type I

Indexed keywords

25 HYDROXYVITAMIN D; CALCITRIOL; CALCIUM; OXYGENASE; PARATHYROID HORMONE; PHOSPHORUS; VITAMIN D; CALCIDIOL 1 MONOOXYGENASE; CYP27B1 PROTEIN, HUMAN; RNA SPLICING;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RICKETS; VITAMIN D DEPENDENT RICKETS TYPE 1; CLINICAL TRIAL; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETICS; GENOTYPE; INFANT; MUTATION; RNA SPLICING; TURKEY;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CHILD, PRESCHOOL; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; RNA SPLICE SITES; TURKEY;

EID: 84961221357     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000444483     Document Type: Article

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