The present invention relates to the discovery of a survival motor-neuron gene or SMN gene which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector...
诊断是(提示 血SMN gene检测:正常。血雄激素受体基因检测:第1号外显子CAG重复数为50。) A. 多灶运动神经病 B. Kennedy病 C. 多发性肌炎 D. 脊髓性肌萎缩 E. 颈椎病 F. 脊髓炎A、空腹血糖B、脑脊液检查C、神经节苷脂抗体D、颈部MRIE、神经传导+肌电图F、肌肉活检A、胸锁乳突肌B、上肢肌C、下肢肌D...
it it.So-in detect part study SMN numberof of different and gene normal copy typesSMA,SMA parents hy fluorescent PCRwith and using quantitative TaqMan MGB(minor technique oftheamount groove ofSMN binder。MGB)probe.Byanalysis quantitative wecan the of in of SMA 1 anddistin- gene get change ...
脊髓性肌萎缩症(spinal muscular atrophy,SMA)是由于运动神经元存活基因1(survival motor neuron gene 1,SMN1)突变导致SMN蛋白功能缺陷所致的遗传性神经肌肉病。SMA以脊髓前角运动神经元退化变性和丢失导致的肌无力和肌萎缩为主要临床特征。 病因和流行病学 SMA呈常...
Survival Motor Neuron (SMN) is a ~38 kDa protein produced chiefly by the SMN1 gene, located on the telomeric portion of chromosome 5q. A nearly identical centromeric copy of the gene (SMN2) also produces a small amount of full-length SMN protein, but due to a translationally silent C-T...
2) Survival motor neuron gene 运动神经元生存(SMN)基因3) SMN protein SMN蛋白 例句>> 4) SMn(D) Array Code SMn(D)阵列编码5) gene [英][dʒi:n] [美][dʒin] 基因 1. Study of the Preparation and the Characteristics of pRc/CMV-BChE Gene-chitosan nanoparticles ①; 丁酰...
SMN基因诊断小儿脊髓性肌萎缩症 维普资讯 http://www.cqvip.com
中英文说明丨艾美捷SMN酶联免疫试剂盒 Survival Motor Neuron (SMN) is a ~38 kDa protein produced chiefly by the SMN1 gene, located on the telomeric portion of chromosome 5q. A nearly identical centromeric copy of the gene (SMN2) also produces a small amount of full-length SMN protein, but ...
专利名称：Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy 发明人：Melki, Judith,Munnich, Arnold 申请号：EP95402335.4 申请日：19951019 公开号：EP0711833B1 公开日：20050803 专利内容由知识产权出版社提供 摘要：The present invention relates to the discovery of human and mouse ...
[3]RochetteCF, GilbertN, SimardLR.SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids:SMN2 is unique to Homo sapiens[J].Hum Genet,2001,108(3): 255-266.DOI:10.1007/s004390100473. [4...