Genetic sequence related to bone diseases

C - Chemistry – Metallurgy – 07 – K

Patent

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C07K 14/435 (2006.01) A61K 38/17 (2006.01) A61P 19/10 (2006.01) C07K 14/47 (2006.01)

Patent

CA 2462143

The identification, isolation and cloning of gl gene which when mutated is associated with bone related diseases as well as its transcript in gene products. A method of diagnostic and detection of potential carriers of this mutated gene, bone related diseases, diagnosis, gene therapy recombinant technology and therapy using the information derived from the DNA, protein and the function of the protein is also provided.

L'invention concerne l'identification, l'isolement et le clonage du gène gl qui, en cas de mutation, est associé à des maladies des os, ainsi que son transcrit dans des produits géniques. L'invention concerne également un procédé pour le diagnostic et la détection de porteurs potentiels de ce gène muté et de maladies des os. L'invention concerne en outre un outil diagnostique, une technologie de recombinaison par thérapie génique et une thérapie utilisant les informations dérivées de l'ADN, ainsi qu'une protéine et la fonction de cette protéine.

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