机译:Marfan综合征与纯合FBN1 FBN1拼接突变
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
Shengli Clinical Medical College of Fujian Medical UniversityFuzhou Fujian China;
机译:Marfan综合征与纯合FBN1 FBN1拼接突变
机译:由FBN1突变引起的马凡综合症,该突变导致隐蔽剪接和编码序列中33个核苷酸的插入。
机译:在65名具有Marfan综合征或类Marfan表型的先证者中鉴定新的FBN1和TGFBR2突变。
机译:具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
机译:Marfan综合征相关的突变导致TGF-β家族受体的异常贩运
机译:马凡氏综合征中十二个新的FBN1突变及其相关表型测试了FBN1突变测试在临床实践中的可行性
机译:马凡氏综合征中十二个新的FBN1突变及与马凡有关的表型测试了FBN1突变测试在临床中的可行性。