Case report: A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets

Annals of Clinical and Laboratory Science

Volumn 39, Issue 2, 2009, Pages 182-187

  Kim, Juwon ^a   Kyu, Hyun Yang ^a   Ji, Sun Nam ^a   Jong, Rak Choi ^a   Song, Jaewoo ^a   Chang, Myungsook ^a   Lee, Kyung A ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

Hypophosphatemic rickets; PHEX mutations; Phosphate regulating gene; X chromosome

Indexed keywords

ALKALINE PHOSPHATASE; CALCIFEDIOL; CALCITRIOL; CALCIUM; CREATININE; GENOMIC DNA; OSTEOCALCIN; PARATHYROID HORMONE; PHOSPHATE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; DNA; PHEX PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOANALYZER; BLOOD LEVEL; BONE DENSITY; CASE REPORT; CODON; CORRELATION ANALYSIS; DELETION MUTANT; DNA EXTRACTION; DUAL ENERGY X RAY ABSORPTIOMETRY; ENZYME REGULATION; EXON; FEMALE; FEMUR NECK; GAIT DISORDER; GENE AMPLIFICATION; GENE CONTROL; GENE SEQUENCE; GROWTH RETARDATION; HUMAN; HYPOPHOSPHATEMIC RICKETS; INTRON; KIDNEY CONCENTRATING CAPACITY; LUMBAR SPINE; MUSCULOSKELETAL SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; PHOSPHATE BLOOD LEVEL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIODIAGNOSIS; BLOOD; FIBULA; FRACTURE; GENETICS; ISOLATION AND PURIFICATION; MUTATION; PERIODONTITIS; TIBIA FRACTURE; X CHROMOSOME; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADULT; CHROMOSOMES, HUMAN, X; CODON; DNA; EXONS; FEMALE; FIBULA; FRACTURES, BONE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTRONS; MUTATION; PERIODONTAL ABSCESS; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; TIBIAL FRACTURES;

EID: 66349095238     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

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