The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Mar. 12, 2013
Filed:
Dec. 21, 2010
Applicants:
Teepu Siddique, Wilmette, IL (US);
Han-xiang Deng, Chicago, IL (US);
Jianhua Yan, Naperville, IL (US);
Inventors:
Teepu Siddique, Wilmette, IL (US);
Han-Xiang Deng, Chicago, IL (US);
Jianhua Yan, Naperville, IL (US);
Assignee:
Northwestern University, Evanston, IL (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2006.01); C07H 21/02 (2006.01); C07H 21/04 (2006.01); C07K 14/435 (2006.01); G01N 33/53 (2006.01);
U.S. Cl.
CPC ...
Abstract
The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).