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一个复合杂合突变导致的遗传性凝血因子V缺陷症家系
OBJECTIVE: To explore the molecular pathogenesis of a family with hereditary factor Ⅴ（FⅤ）deficiency. METHODS: All the exons, flanking sequences, 5′ and 3′ untranslated regions of the F5 of the proband, and the corresponding mutation sites of the family members were analyzed via direct DNA sequencing...
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| Published in: | Zhonghua Xue Ye Xue Za Zhi |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Editorial office of Chinese Journal of Hematology
2021
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8071673/ https://ncbi.nlm.nih.gov/pubmed/33858044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3760/cma.j.issn.0253-2727.2021.02.008 |
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