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The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF
We characterized a consanguineous Turkish family suffering from von Willebrand disease (VWD) with significant mucocutaneous and joint bleeding. The relative reduction of large plasma von Willebrand factor (VWF) multimers and the absent VWF triplet structure was consistent with type 2A (phenotype IIC...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society of Hematology
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2881501/ https://ncbi.nlm.nih.gov/pubmed/20335223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2009-09-244327 |
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