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Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency

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1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
  
  PMID: 25708597
  
  Gene: F8
  
  Disease: Hemophilia A
  
  HGNC:3546
  
  MONDO ID: MONDO:0010602
  
  General MONDO:0010602 HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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HGNC:3546

inferred_gene_hgnc:3546

Gene:F8

MONDO:0010602

General

inferred_gene_source:hgnc_tag

ClinGen Coag Fac Def VCEP

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ClingenBaseline

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onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.12651