Mutations in the ferroportin 1 gene associated with...

Details Mutations in the ferroportin 1 gene associated with... Mutations in the ferroportin 1 gene associated with...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A61K 31/7088 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) A61P 3/02 (2006.01) C07H 21/00 (2006.01) C07K 7/06 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12N 5/10 (2006.01) C12P 19/34 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2425669

The present invention relates to mutations in the gene coding for ferroportin 1 associated with hereditary haemochromatosis and methods for the diagnosis of hereditary haemochromatosis based on the identification of such mutations.

La présente invention concerne, d'une part des mutations affectant le gène codant pour la ferroportine 1 associé à l'hématochromatose héréditaire, et d'autre part des procédés permettant un diagnostic de l'hématochromatose héréditaire à partir de l'identification de telles mutations.

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