Mutations in the slc40a1 gene associated to impaired iron...

Details Mutations in the slc40a1 gene associated to impaired iron... Mutations in the slc40a1 gene associated to impaired iron...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2528692

The present invention relates to mutations in the SLC40A1 gene coding for the ferroportin 1, associated to impaired iron homeostasis or to non-HFE hereditary hemochromatosis and to methods for the diagnosis of these hereditary diseases based on the identification of said mutations.

L'invention concerne des mutations dans le gène SLC40A1 codant la ferroportine 1, associées à une homéostasie du fer altérée ou à une hémochromatose héréditaire non liée au gène HFE, ainsi que des méthodes diagnostiques pour ces maladies héréditaires fondées sur l'identification desdites mutations.

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