Hunting for the mutation in inherited thrombophilia.
Mutation detection in inherited thrombophilia remains largely confined to the research laboratory. However, there are specific situations when investigating the genetic defect causing thrombophilia can provide additional useful clinical information. This review discusses the value of genetic analysis in the common inherited thrombophilias.
Gomez
Keith
K
MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK. keith.gomez@csc.mrc.ac.uk
Laffan
Michael A
MA
D000991:Antithrombins / Q000172:deficiency / Q000235:genetics; D005337:Fibrin / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D015994:Incidence; D009154:Mutation; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency / Q000453:epidemiology / Q000235:genetics; D017293:Protein S / Q000235:genetics; D018455:Protein S Deficiency / Q000453:epidemiology / Q000235:genetics; D011544:Pseudogenes; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*
D000991:Antithrombins; D011486:Protein C; D017293:Protein S; D005337:Fibrin