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The level of severity of the disorder breeds true in any given family, 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 mutations, but this is less common...
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