机译:FBN1中的总缺失导致Marfan综合征可变表型
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
Department of Cardiology Peking Union Medical College Hospital Chinese Academy of Medical Science;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
Department of Cardiology Peking Union Medical College Hospital Chinese Academy of Medical Science;
McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology;
Marfan syndrome; MLPA; FBN1; Gross deletion; Phenotype;
机译:FBN1中的总缺失导致Marfan综合征可变表型
机译:FBN1基因的多外显子框外缺失导致在Marfan综合征中出现严重的青少年发作心血管表型。
机译:鉴定与表征跨临床表型的大型植物中的新型FBN1基因变种术临床表型
机译:用于评估Marfan综合征胸主动脉夹层小鼠模型中动脉刚度变化的脉搏波成像
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:马凡氏综合症:由于涉及FBN1的15q21.1 contiguos基因缺失导致的复杂表型报告,并进行文献综述