Factor IX molecular defects in diagnosing hemophilia B: a review

M Tanimoto
Nihon Ketsueki Gakkai Zasshi: Journal of Japan Haematological Society 1989, 52 (4): 811-5
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.

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