
X连锁Alport综合征COL4A5剪接突变的致病性分析及剪接纠正
周添荣, 张壶涵, 吴春燕, 李琪, 黄晟, 段勇
X连锁Alport综合征COL4A5剪接突变的致病性分析及剪接纠正
Pathogenicity evaluation and splicing correction of COL4A5 splice mutation in X-linked Alport syndrome
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