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Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients
We recently identified two hemophilia B patients who carried Gly-317 to Arg (FIX-G317R) or Gly-317 to Glu (FIX-G317E) substitutions in their FIX gene. The former mutation caused severe and the latter one moderate bleeding in afflicted patients. To understand the molecular basis for the variable clin...
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| Publié dans: | Biochemistry |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4479981/ https://ncbi.nlm.nih.gov/pubmed/26023895 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.biochem.5b00270 |
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