Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly)

Factor VII (FVII) deficiency manifests as prolonged prothrombin time (PT) and reduced FVII activity. We report a case of an asymptomatic 60-year-old gentleman with discrepancies in PT and FVII coagulant activity levels (FVII:C) on three different thromboplastin reagents used. Further sequence analys...

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Detalles Bibliográficos
Autores principales: Gallardo, Christian Aledia, Wong, Lester Jun Long, Sum, Christina Lai Lin, Goh, Liuh Ling, Ong, Kiat Hoe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929202/
https://www.ncbi.nlm.nih.gov/pubmed/35356632
http://dx.doi.org/10.14740/jh943

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929202/
https://www.ncbi.nlm.nih.gov/pubmed/35356632
http://dx.doi.org/10.14740/jh943

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