US Patent 5,733,732
United States Patent and Trademark Office
University of Iowa Research Foundation (Iowa City, IA, US)
Disclosed herein are compositions and methods for the detection of primary adhalinopathy. More specifically, disclosed herein are nucleic acid probes which hybridize specifically, under stringent hybridization conditions, to a mutant adhalin gene or the complement thereof, but not to the corresponding region of a wild-type adhalin gene. Also disclosed are methods for the detection of a mutation in the human adhalin gene which is responsible for primary adhalinopathy. Such methods include the use of the nucleic acid probes of the invention for detection of the myopathy by hybridization, as well as detection by direct DNA sequencing techniques.
Campbell, Kevin P.; Roberds, Steven L.; Sunada, Yoshihide; Piccolo, Federica; Jeanpierre, Marc; and Kaplan, Jean-claude Methods for detecting primary adhalinopathy. US Patent 5,733,732 filed January 03, 1996 and issued March 31, 1998. https://ir.uiowa.edu/patents/180