Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification.
第一作者:
Keith,Tomaszewicz
第一单位:
Department of Laboratory Medicine, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
作者:
医学主题词
cAMP反应元件结合蛋白质(Cyclic AMP Response Element-Binding Protein);外显子(Exons);基因缺失(Gene Deletion);基因检测(Genetic Testing);人类(Humans);肌萎缩, 脊髓性(Muscular Atrophy, Spinal);神经组织蛋白质类(Nerve Tissue Proteins);聚合酶链反应(Polymerase Chain Reaction);RNA结合蛋白质类(RNA-Binding Proteins);SMN复合蛋白质类(SMN Complex Proteins)
PMID
15719043
发布时间
2017-11-16
- 浏览2
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2005年37卷1期
55-7页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文


换一批



