Historical review on genetic analysis in hemophilia A.
作者： Behnaz Pezeshkpoor , Anna Pavlova , Johannes Oldenburg
关键词:
摘要: Molecular genetic analysis is widely applied in inherited bleeding disorders. The outcome of allows counselling affected families and helps to find a link between the genotype phenotype. Genetic hemophilia A (HA) has tremendously improved past decades. Many new techniques modifications as well software have become available, which enabled interpretation data faster more accurate. advances mutation detection strategies facilitate identification causal up 97% patients with HA. This review discusses milestones HA highlights importance causative mutations for counseling particularly clinical presentation patients.
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