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Hemophilia 3

Part one of term paper
The genetic disorder which I have chosen as the subject of my report is hemophilia. There are two types of hemophilia, hemophilia-A and hemophilia-B. The clinical symptoms of both are very similar so for the purposes of this paper I have chosen to concentrate on hemophilia-A. Hemophilia-A is an X linked bleeding disorder resulting from a defe ...

Part two of term paper
... which indicates that the phenotypic expression of the disorder reflects the genetic defect. In about 5% of cases, hemophilia-A results from partial deletion of the factor VIII gene, and is severe. Other cases result from a single base mutation in the gene. This can result in nonsense mutations which result in premature stop codons, and a severe expression of the disorder, or missense mutations which cause milder forms of the disorder. In some cases the disorder can also result from spontaneous ...

Word count: 660 | Approximate pages: 3

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