Methods for detecting mutations associated with familial dysautonomia

  • US 7,407,756 B2
  • Filed: 03/04/2005
  • Issued: 08/05/2008
  • Est. Priority Date: 01/06/2001
  • Status: Active Grant
First Claim
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1. A method for assaying for the presence of a mutation associated with Familial Dysautonomia in a human subject, said method comprising detecting the presence of a FD1 mutation wherein the thymine nucleotide at position 34,201 of SEQ ID NO:

  • 1 is replaced by a cytosine nucleotide, or a FD2 mutation wherein the guanine nucleotide at position 33,714 of SEQ ID NO;

    1 is replaced by a cytosine nucleotide in DNA or RNA from a biological sample from said human.

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