Molecular Diagnosis · 1997 · 20 citations · 28 references
MedicineGeneticsMolecular GeneticsHemostasisHuman GeneticsMedical GeneticsCoagulation DisordersDeep Vein ThrombosisHemostatic DisordersThromboembolic DiseaseThrombosisVenous DiseaseDihydrofolate Reductase MutationHomocysteine ElevationHomocysteine Metabolism DisordersMethylenetetrahydrofolate Reductase PolymorphismsMutation
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Mutation in blood coagulation factor V associated with resistance to activated protein C
Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster et al. · Nature · 1994 · 3.8K citations
Medicine, Genetics, Hematology +14
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations