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Article

Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs*2) in the F5 gene: A case report.

Medicine - 1 Jan 2020

Park Chang-Hun, Park Min-Seung, Lee Ki-O, Kim Sun-Hee, Park Young Shil, Kim Hee-Jin

Abstract excerpt

INTRODUCTION: Congenital factor V deficiency (FVD) is a rare bleeding disorder characterized by low or undetectable plasma factor V (FV) levels leading to mild to severe bleeding symptoms. Currently, more than 100 mutations have been reported in F5. We herein report a patient with FVD from mutations in the F5 gene. PATIENT CONCERNS: A 52-year-old man with prolonged prothrombin time and activated partial...

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Identifiers

PMID: 32000417
DOI: 10.1097/MD.0000000000018947
PMCID: PMC7004762

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