Published Online:5 Feb 2014https://doi.org/10.2217/fmeb2013.13.168
Abstract:
Genetic studies in hemophilia have contributed to the better understanding of its biology, the detection of carriers and prenatal diagnosis. Studies of risk factors for the development of alloantibodies in patients with hemophilia indicate a involvement of multiple genetic and nongenetic factors. Novel mutations are giving insight into newer strategies for treatment with more efficient recombinant products. Several genetic pathologies such as inversions of intron 1 and 22 of factor IX, and gain of function mutations such as factor IX Padua provide us with newer mechanisms of gene pathology in general and for hemophilia in particular.
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Websites
- 101 HamSTeRs. http://hadb.org.uk
- 102 Factor IX Mutation Database. www.factorix.org
- 103 Human Gene Mutation Database. www.hgmd.org
