发明名称 |
Ferroportin-1 mutant |
摘要 |
A mutant, human ferroportin-1 protein and encoding nucleic acid are provided. The mutant ferroportin-1 protein has a deletion of valine 162 compared to wild-type ferroportin-1 protein. The mutant protein and nucleic acid may be useful in detection of a predisposition to iron overload disorders such as haemochromatosis. Furthermore, it is proposed that the valine 162 deletion is a loss-of-function mutation that may underlie iron overload disorders such as haemochromatosis. Therefore, methods of both diagnosis and treatment of haemochromatosis are provided.
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申请公布号 |
US2005054037(A1) |
申请公布日期 |
2005.03.10 |
申请号 |
US20040490795 |
申请日期 |
2004.08.26 |
申请人 |
WALLACE DANIEL;ARDEN KATHERINE;PEDERSEN PALLE;SUBRAMANIAM NATHAN |
发明人 |
WALLACE DANIEL;ARDEN KATHERINE;PEDERSEN PALLE;SUBRAMANIAM NATHAN |
分类号 |
A61P43/00;C07K14/47;C12Q1/68;(IPC1-7):C07H21/04;C12P21/04;C07K16/18;C07K14/795 |
主分类号 |
A61P43/00 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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