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Atypical haemochromatosis: phenotypic spectrum and β(2)-microglobulin candidate gene analysis
β(2)-microglobulin was investigated in atypical haemochromatosis patients not homozygous for the C282Y mutation of HFE (OMIM *235200), because the HFE protein binds β(2)-microglobulin, and in mice β(2)-microglobulin gene knockout causes hepatic iron overload. Six unrelated patients with atypical hae...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
1999
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734400/ https://ncbi.nlm.nih.gov/pubmed/10424814 |
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