C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) A01K 67/027 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 5/10 (2006.01) C12N 15/12 (2006.01) G01N 33/68 (2006.01)
Patent
CA 2325663
The invention features novel mutations in the FREAC3 gene. Our discovery provides methods for early diagnosis of glaucoma, other disorders of the eye, and heart defects. Also provided are cells having at least one deficient FREAC3 gene. Such cells may be used to detect therapeutic compounds that mimic FREAC3, are agonists of FREAC3, or otherwise modulate the level of FREAC3 biological activity.
L'invention concerne des nouvelles mutations dans le gène FREAC3 et sur des méthodes de diagnostic précoce du glaucome, d'autres troubles oculaires et d'anomalies cardiaques. Elle se rapporte encore à des cellules possédant au moins un gène FREAC3 déficient. Lesdites cellules peuvent être utilisées pour la détection de composés thérapeutiques qui imitent FREAC3, qui sont des agonistes de FREAC3, ou qui modulent le niveau d'activité biologique de FREAC3.
Jordan Tim
Raymond Vincent
Walter Michael A.
Mbm Intellectual Property Law Llp
The Governors Of The University Of Alberta
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