Novel CYP27B1 gene mutations in patients with vitamin D-dependent rickets type 1A

PLoS ONE

Volumn 10, Issue 7, 2015, Pages

  Demir, Korcan ^a   Kattan, Walaa E ^b,c   Zou, Minjing ^c   Durmaz, Erdem ^d   BinEssa, Huda ^c   Nalbantoʇlu, Özlem ^a   Al Rijjal, Roua A ^c   Meyer, Brian ^c   Özkan, Behzat ^a   Shi, Yufei ^c  

^a DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

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

^d SIFA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; CALCIDIOL 1 MONOOXYGENASE; CYP27B1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CYP27B1 GENE; ETHNIC GROUP; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; POPULATION RESEARCH; RICKETS; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TURKISH; VITAMIN D DEFICIENCY; VITAMIN D DEPENDENT RICKETS TYPE 1A; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENE DELETION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; INFANT; INTRON; MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CHILD; CHILD, PRESCHOOL; EXONS; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INTRONS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 84940981021     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0131376     Document Type: Article

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