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:
Dec. 03, 2013
Filed:
Jan. 09, 2012
Applicants:
John B. Vincent, Toronto, CA;
Muhammad Ayub, Durham, GB;
Inventors:
John B. Vincent, Toronto, CA;
Muhammad Ayub, Durham, GB;
Assignee:
Centre for Addiction and Mental Health, Toronto, Ontario, CA;
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12N 15/12 (2006.01); C12Q 1/68 (2006.01);
U.S. Cl.
CPC ...
Abstract
The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins that includes an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.