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A Novel Amino Acid Substitution, Fibrinogen Bβp.Pro234Leu, Associated with Hypofibrinogenemia Causing Impairment of Fibrinogen Assembly and Secretion
We identified a novel heterozygous variant, Bβp.Pro234Leu (fibrinogen Tokorozawa), which was suspected to be associated with hypofibrinogenemia. Therefore, we analyzed the assembly and secretion of this fibrinogen using Chinese hamster ovary (CHO) cells. To determine the impact on the synthesis and...
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| Опубликовано в: : | Int J Mol Sci |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7764081/ https://ncbi.nlm.nih.gov/pubmed/33322044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21249422 |
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