Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

Bone

Volumn 52, Issue 1, 2013, Pages 286-291

  Durmaz, Erdem ^b   Zou, Minjing ^a   Al Rijjal, Roua A ^a   Baitei, Essa Y ^a   Hammami, Sumaya ^a   Bircan, Iffet ^b   Akçurin, Sema ^b   Meyer, Brian ^a   Shi, Yufei ^a  

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

^b AKDENIZ UNIVERSITY   (Turkey)

Author keywords

Hypophosphatemic rickets; PHEX mutation; Vitamin D; X linked

Indexed keywords

ADENOSINE; CALCITRIOL; GENOMIC DNA; GUANOSINE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PHOSPHORUS;

ADOLESCENT; ADULT; ARTICLE; CHILD; DNA ISOLATION; DONOR SITE; ETHNIC GROUP; EXON; FAMILY HISTORY; FEMALE; GENE; GENE DOSAGE; GENE FUNCTION; GENE MUTATION; GERM CELL; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MUTAGENESIS; MUTATIONAL ANALYSIS; PHENOTYPE; PHEX GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; SEX RATIO; TURKISH; X CHROMOSOME; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TURKEY; YOUNG ADULT;

EID: 84868489074     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.10.012     Document Type: Article

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