Hemophilia is a hereditary bleeding disorder characterized by Factor VIII (F-VIII) or Factor IX (F-IX) deficiency, bleeding into joints and soft tissues, and an X-linked mode of inheritance. Approximately one third of new cases occur as spontaneous mutations, with no family history of hemophil...
Genetic studies in a family with testicular feminization, haemophilia A and colour blindnessGenetic studies in a family with testicular feminization, haemophilia A and colour blindnessThe mode of inheritance of the syndrome of testicular feminization (tf) is not clear. Linkage studies to date have bee...
Genetic analysis has been undertaken for hemophilia B since the mid‐1980s, through linkage analysis to track inheritance of an affected allele, and to enable determination of the familial mutation. Mutation analysis using PCR and Sanger sequencing along with dosage analysis for detection of large ...