Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens

Experimental and Clinical Endocrinology and Diabetes

Volumn 119, Issue 7, 2011, Pages 431-435

  Kienitz, T ^a   Ventz, M ^a   Kaminsky, E ^b   Quinkler, M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Laboratory for Molecular Genetics   (Germany)

Author keywords

FGF23; hypophosphatemia; MEPE; PHEX; X linked hypophosphatemic rickets; XLH

Indexed keywords

CALCITRIOL; DISODIUM HYDROGEN PHOSPHATE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; POTASSIUM DIHYDROGEN PHOSPHATE;

ADULT; ARTICLE; CASE REPORT; CHILD; CODON; DISEASE MARKER; EXON; FEMALE; HEARING LOSS; HUMAN; HYPERPARATHYROIDISM; KIDNEY CALCIFICATION; LABORATORY TEST; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; X LINKED HYPOPHOSPHATEMIC RICKETS;

ADOLESCENT; ADULT; ARTHROPLASTY, REPLACEMENT, HIP; BONE DENSITY CONSERVATION AGENTS; CALCINOSIS; CALCITRIOL; CODON, NONSENSE; EXONS; FEMALE; HEARING LOSS; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE;

EID: 79960162494     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0031-1277162     Document Type: Article

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