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机译:PKD1外显子突变引起的剪接缺陷是常染色体显性多囊肾病发病机制的新机制
ADPKD; disease-causing variant; exonic mutations; missense mutation; mRNA analysis; minigene assay; pre-mRNA splicing; PKD1; synonymous mutation; splice site mutation; ADPKD; autosomal dominant polycystic kidney disease; ESE; exonic splicing enhancer; ESS; exonic splicing silencer; ISE; intronic splicing enhancer; ISS; intronic splicing silencer; NMD; nonsense-mediated mRNA decay; RT-PCR; reverse-transcribed polymerase chain reaction; SR proteins; serine; arginine-rich proteins; SRE; splicing regulatory element;
机译:PKD1外显子突变引起的剪接缺陷是常染色体显性多囊肾病发病机制的新机制
机译:PKD1基因的新型剪接突变导致中国家庭常染色体显性遗传多囊肾
机译:新型PKD1变体在常染色体显性多囊肾病患者中以截短的PKD1突变在反式中表现出改善疾病的作用
机译:常染色体显性多囊性肾脏病患者的磁共振图像肾脏检测与分割
机译:常染色体显性遗传性多囊性肾脏疾病的肾脏分割和图像分析
机译:PKD1外显子突变引起的剪接缺陷是常染色体显性多囊肾病发病机制的新机制
机译:常染色体显性多囊肾疾病1(PKD1)基因的新型剪接和畸形突变:突变基因的表达
机译:在常染色体显性多囊肾病小鼠模型中体内诱导体细胞pkd1突变。