SMN1相关论文
目的 建立滤纸干血斑基因组DNA自动化提取方法及流程，并探索其在脊髓性肌萎缩症（SMA）基因筛查中的应用。方法 收集45份干血斑标本，采用......
目的 通过运动神经元存活基因1(SM N1)筛查获得山西省太原地区部分人群的脊髓性肌萎缩症(SM A)携带者频率,并进行SM A阳性家系分析......
线粒体是一种普遍存在于真核细胞的细胞器,是真核细胞氧化磷酸化和ATP产生的主要产所,为细胞各种复杂的生物学活动提供动力。线粒......
Molecular characterization in SMA-relate gene about spinal muscular atrophy patients in southwest of
Objective:Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletion or intrageni......
目的了解金华地区育龄妇女脊髓性肌萎缩症(spinal muscular atrophy,SMA)基因携带率,对出生缺陷防控提供参考。方法收集2016年10月......
目的进行脊髓性肌萎缩症(spinal muscular atrophy,SMA)基因携带者的筛查,为遗传咨询提供理论依据。方法应用实时荧光定量PCR特异......
Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-perform
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder1 (1in 6000 to 10 000 births) cause......
Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-perform
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder1 (1in 6000 to 10 000 births) caused......
目的探讨分子生物学技术在脊髓肌萎缩症(spinal muscular atrophy,SMA)产前筛查中的临床应用价值及产前诊断相关策略。方法分析产......
脊髓性肌萎缩症(spinal muscular atrophy, SMA)是一种儿童时期较为常见的神经肌肉病,属于常染色体隐性遗传。绝大多数SMA由运动神......
1000 sample comparison of MLPA and RT-PCR for carrier detection and diagnostic testing for Spinal Mu
Purpose: To compare the accuracy of a commercially available MLPA kit with a laboratory developed RT-PCR assay for the d......
乙肝病毒的转录后调控元件(PRE)是乙肝病毒中所有的转录本都具有的—段重要调控元件。目前为止发现它的最主要功能是帮助不剪接的H......
