Congenital Factor V Deficiency from Compound Heterozygous Mutations with a Novel Variant c.5403del (p.Lys1801AsnfsTer11) in the F5 Gene: A Case Report
Author:
Affiliation:
1. Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea
2. Division of Hematology and Oncology, Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea
Publisher
Laboratory Medicine Online
Link
https://pdf.medrang.co.kr/LMO/2024/014/LMO014-02-147.pdf
Reference6 articles.
1. Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients
2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
3. Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation
4. A novel mutation of congenital factor V deficiency in Henoch–Schönlein purpura
5. Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency
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