C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A61K 31/00 (2006.01) A61K 35/00 (2006.01) A61K 38/00 (2006.01) A61K 38/46 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C12N 5/10 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/50 (2006.01) G01N 33/566 (2006.01)
Patent
CA 2522680
Polynucleotide and polypeptide sequences for HFE2A, as well as mutations associated with juvenile hemochromatosis, and methods of utilizing these for the screening and identification of agents for the treatment of diseases of iron metabolism, including small organic compounds, are disclosed along with methods of treating and/or ameliorating diseases of iron metabolism, especially in human patients are disclosed. Diagnostic compounds, kits and methods using HFE2A are also described.
L'invention concerne des séquences de polynucleotide et de polypeptide pour HFE2A, ainsi que des mutations associées à l'hémochromatose juvénile, des procédés d'utilisation de celles-ci pour le criblage et l'identification d'agents pour le traitement de maladies liées au métabolisme du fer, y compris de petits composés organiques. L'invention concerne en outre des procédés de traitement et/ou d'amélioration de maladies liées au métabolisme du fer, notamment chez des patients humains. Enfin, l'invention concerne des composés de diagnostic, des kits et des procédés utilisant HFE2A.
Franchini Patrick
Goldberg Yigal Paul
Kamboj Rajender K.
Ludwig Erwin H.
Macdonald Marcia L. E.
Mbm Intellectual Property Law Llp
Xenon Pharmaceuticals Inc.
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