Osteolevin gene polymorphisms

C - Chemistry – Metallurgy – 12 – N

Patent

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Details

C12N 15/12 (2006.01) A61P 19/08 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2412110

The present inventon relates generally to genetic polymorphisms in the Van Buchem-sclerosteosis disease region. In particular, the present invention relates to genetic polymorphisms in the Van Buchem-sclerosteosis disease region that are associated with disorders resulting in either net excess bone formation or insufficient bone formation in humans. Furthermore, isolated nucleic acid molecules encoding human osteolevin are provided. Osteolevin polypeptides are also provided as are vectors, host cells and recombinant methods for producing the same.

L'invention concerne en général des polymorphismes génétiques dans la région de la sclérostéose et de la maladie de Van Buchem, et en particulier, ceux qui sont associés à des troubles donnant lieu soit à une formation osseuse excessive soit à une formation osseuse insuffisante chez l'homme. De plus, l'invention concerne des molécules d'acide nucléique isolées codant l'ostéolévine humaine. L'invention concerne également des polypeptides d'ostéolévine ainsi que des vecteurs, des cellules hôtes et des procédés de recombinaison pour produire lesdits polypeptides.

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