Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene
作者： Hagop Youssoufian , Haig H. Kazazian , Achyut Patel , Sophia Aronis , George Tsiftis
DOI: 10.1016/0888-7543(88)90106-1
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摘要: Abstract Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized variation in clinical severity and coagulation activity. This thought to reflect heterogeneity mutations the VIII gene. Here we describe a CG-to-CA mutation within potential cryptic donor splice site intron 4 gene from patient with mild disease. makes sequence resemble more closely consensus for sites. We infer that activates site, which turn causes defect RNA processing.
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