ReviewJournal of clinical laboratory analysis2022
Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review.
Review in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.Journal of clinical laboratory analysis · 2023Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundCongenital factor VII (FVII) deficiency is a rare inherited autosomal recessive disorder characterized by prolongation of prothrombin time and low FVII coagulation activity, which may increase the risk of bleeding. CASE PRESENTATION: A 66-year-old man with acute postoperative intracranial hemorrhage was transferred to our hospital owing to coagulation dysfunction. In coagulation tests, the FVII coagulation activity was less than 2%. Genetic analysis of the gene encoding FVII identified compound heterozygous mutations: c. 681+1 G>T and c. C1286T (p. Ala429Val).
conclusionsTo our knowledge, this is the first report describing the c. C1286T (p. Ala429Val) mutation in the FVII-encoding gene. We suggest that these mutations resulted in the reduced FVII activity and abnormal clotting in our patient after brain surgery.
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