US2008187931A1PendingUtilityA1

Mutations associated with iron disorders

Individually held — no corporate assignee on recordPriority: Mar 26, 1999Filed: Dec 28, 2007Published: Aug 7, 2008
Est. expiryMar 26, 2019(expired)· nominal 20-yr term from priority
C12Q 1/6883C12Q 2600/156C12Q 2600/158A61P 3/00
71
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Claims

Abstract

The invention features a method of diagnosing an iron disorder, e.g., hemochromatosis, or a genetic susceptibility to developing such a disorder in a mammal by determining the presence of a mutation in exon 2 or in an intron of an HFE nucleic acid.

Claims

exact text as granted — not AI-modified
1 - 15 . (canceled) 
     
     
         16 . A kit for diagnosing an iron disorder or a genetic susceptibility to developing said disorder in a mammal, comprising an antibody which preferentially binds to an epitope of a mutant HFE gene product, wherein said gene product comprises amino acid substitution I105T, G93R, or 865C. 
     
     
         17 . A kit for diagnosing an iron disorder or a genetic susceptibility to developing said disorder in a mammal, comprising an antibody which preferentially binds to an epitope of a wild type HFE gene product, wherein said gene product comprises amino acid substitution I105, G93, or 865.

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