Novel PHEX mutation associated with hypophosphatemic rickets

Nephron - Physiology

Volumn 106, Issue 1, 2007, Pages

  Roetzer, Katharina M ^a   Varga, Franz ^a   Zwettler, Elisabeth ^a   Nawrot Wawrzyniak, Kamilla ^a   Haller, Joerg ^a,b   Forster, Ernst ^b   Klaushofer, Klaus ^a,b  

^a LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^b HANUSCH HOSPITAL   (Austria)

Author keywords

Hypophosphatemia; Hypophosphatemic rickets; PHEX gene; XLH

Indexed keywords

CALCITRIOL; FIBROBLAST GROWTH FACTOR 23; PARATHYROID HORMONE; PHOSPHATE;

ADULT; ANAMNESIS; ARTICLE; BONE DENSITY; BONE MINERAL; CASE REPORT; CLINICAL FEATURE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; PHOSPHATE REGULATING GENE WITH HOMOLOGIES TO ENDOPEPTIDASES ON THE X CHROMOSOME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIODIAGNOSIS; STOP CODON; VITAMIN D RESISTANT RICKETS;

BASE SEQUENCE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34247872933     PISSN: 16602137     EISSN: None     Source Type: Journal    
DOI: 10.1159/000101487     Document Type: Article

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