Document Type

Patent

Patent Number

US Patent 5,733,732

Patent agency

United States Patent and Trademark Office

Publication Date

3-31-1998

Assignee

University of Iowa Research Foundation (Iowa City, IA, US)

Application Number

08/582,539

Date Filed

1996-01-03

Total Pages

14 pages

Abstract

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.

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URL

https://ir.uiowa.edu/patents/180