Factor IX molecular defects in diagnosing hemophilia B: a review.
The past several years have seen an explosive growth in the application of recombinant DNA methods to study the molecular pathology of various inherited disorders. As a consequence, molecular defects responsible for the disease have been identified at the sequence level. In this review, I briefly describe the recent progress in the uses of factor IX gene probes in clinical diagnosis of hemophilia B (Christmas disease) carriers, as well as their use for analyzing the structural gene abnormalities that are responsible for the disease.
Tanimoto
M
M
D002872:Chromosome Deletion; D005164:Factor IX / Q000235:genetics*; D006580:Genetic Carrier Screening; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation
D005164:Factor IX