Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.
复制标题
外显子跳跃可部分恢复具有外显子 13 重复的轻度 A 型血友病患者的 VIII 因子凝血活性。
作者：
M. Acquila;M. Pasino;T. Lanza;A. Molinari;C. Rosano;M. Bicocchi
通过逆转录聚合酶链反应（RT-PCR）分析了F8基因外显子13重复患者的异位mRNA，该突变已被证明是32%的意大利北部北方受试者轻度血友病A的原因。由于选择性剪接过程，两种不同的转录物来源于突变的基因组DNA。较大的转录本包含两个重复的外显子13，较小的转录本仅包含一个外显子13。导致轻度血友病A表型的残留FVIII：C活性来自后一种转录物。
Ectopic mRNA was analyzed by reverse transcriptase polymerase chain reaction (RT-PCR) in patients with duplication of F8 gene exon 13, a mutation which has been demonstrated to be a cause of mild hemophilia A in 32% of Northern Italian subjects. Two different transcripts originate from mutated genomic DNA, due to alternative splice processes. The larger-sized transcript contains both duplicated exons 13, the smaller one contains only one exon 13. The residual FVIII:C activity which accounts for the mild hemophilia A phenotype derives from the latter transcript.
影响因子：
20.3
作者：
Mitsiades, N;Mitsiades, CS;Anderson, KC
通讯作者：
Anderson, KC