Performance of next-generation sequencing in the detection of large exon deletion in patients of haemophilia A
Performance of next-generation sequencing in the detection of large exon deletion in patients of haemophilia A
复制标题
新一代测序在血友病 A 患者大外显子缺失检测中的表现
作者：
He X.;Xiong Z.;Shen N.;Lu Y.;Wang X.
本文讨论了下一代测序 (NGS) 在遗传性出血性疾病的基因诊断中的应用。它提到了 A 型血友病 (HA) 中大缺失和重复突变筛查的信息。它还提到了有关多重连接依赖性探针扩增的信息。
The article discusses the usage of next-generation sequencing (NGS) in the genetic diagnosis of inherited bleeding disorders. It mentions the information on the mutation screening for large deletions and duplications in Haemophilia A (HA). It also mentions the information on the Multiples ligation-dependent probe amplification.