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Mutations associated with cystic fibrosis

  • US 10,233,499 B2
  • Filed: 04/19/2017
  • Issued: 03/19/2019
  • Est. Priority Date: 03/22/2010
  • Status: Active Grant
First Claim
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1. A method comprising:

  • detecting, using a plurality of labeled nucleic acid molecules that each comprise a fragment of a cystic fibrosis transmembrane conductance regulator gene and that specifically hydbridize to a mutant but not a wild-type cystic fibrosis transmembrane conductance regulator gene, wherein the labeled nucleic acid molecules each contain a cystic fibrosis transmembrane conductance regulator 2957delT mutation, and wherein the label comprises one of a radionucleotide, a fluorophore, a chemiluminescent agent, a microparticle, an enzyme, a colorimetric label, a magnetic label, a hapten, a molecular beacon, or an aptamer beacon, in a sample obtained from a human subject, the presence of a 2957delT mutation in a cycstic fibrosis transmembrane conductance regulator (CFTR) gene or protein.

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