Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
Hemophilia B Chapel Hill is a mild hereditary hemorrhagic disorder in which the factor IX antigen is present in normal amounts but factor IX biological activity is markedly reduced. Previous studies have demonstrated that purified factor IX Chapel Hill has 8% of the activity of normal human factor I...
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| Wydane w: | Proc Natl Acad Sci U S A |
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| Główni autorzy: | , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
National Academy of Sciences
1983
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC384004/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6603618/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.80.14.4200 |
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