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Methods for detecting the presence of or predisposition to autosomal dominant hypercholesterolemia

  • US 7,300,754 B2
  • Filed: 04/23/2004
  • Issued: 11/27/2007
  • Est. Priority Date: 04/25/2003
  • Status: Expired due to Fees
First Claim
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1. A method of detecting the presence of or predisposition to autosomal dominant hypercholesterolemia in a human subject, the method comprising (i) providing a nucleic acid sample comprising a PCSK9 nucleic acid sequence from the subject and (ii) detecting the presence of an alteration in the PCSK9 nucleic acid sequence, the alteration being a T→

  • A or T→

    G substitution at nucleotide 625 of SEQ ID NO;

    1, said alteration in said nucleic acid sequence being indicative of the presence of or predisposition to autosomal dominant hypercholesterolemia.

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