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Methods of diagnosing hypophosphatemic disorders

  • US 8,586,317 B2
  • Filed: 04/11/2011
  • Issued: 11/19/2013
  • Est. Priority Date: 07/19/2000
  • Status: Expired due to Term
First Claim
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1. A method of diagnosing a hypophosphatemic disorder in a mammal, said method comprising (a) obtaining a biological sample from said mammal and (b) contacting said biological sample with a reagent that detects the level of fibroblast growth factor-23 (FGF23) polypeptide in said sample,wherein the FGF23 polypeptide is a polypeptide selected from the group consisting of a polypeptide comprising the amino acid sequence of SEQ ID NO:

  • 2, a polypeptide comprising the amino acid sequence of SEQ ID NO;

    4, a polypeptide comprising an arginine-to-glutamine mutation at amino acid 176 (R176Q) relative to SEQ ID NO;

    2, a polypeptide comprising an arginine-to-glutamine mutation at amino acid 179 (R179Q) relative to SEQ ID NO;

    2, and a polypeptide comprising an arginine-to-tryptophan mutation at amino acid 179 (R179W) relative to SEQ ID NO;

    2,wherein an elevated level of FGF23 polypeptide in said sample, relative to the level of FGF23 polypeptide in a sample obtained from a control mammal, is an indication that said mammal is afflicted with said hypophosphatemic disorder, thereby diagnosing said hypophosphatemic disorder in said mammal.

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