(in exons 7 and 8) are used to distinguish the telomeric (SMN1) from centromeric (SMN2) copy in DNA analysis. SMA of all types is associated with homozygous mutation (invariably deletions) of theSMN1gene. The centromericSMN2cannot compensate forSMN1deletion because the sequence difference in ...
SMN Complex ProteinsSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinGene ConversionMost carriers of autosomal recessive (SMA) have only one copy of because of gene deletions or gene conversions from to , which has only one base difference in coding sequence from . Using gene...
S, Leonard DG, Paessler M, Wilson RB (2003) Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. ... Shuji,Ogino,Sizhen,... - 《European Journal of Human Genetics》 被引量: 56发表: 2003年 A Single Nucleotide Difference That Alters Spl...
(SMN2 with a deletion of Exon7-8) from a whole-genome sequencing (WGS) BAM file. This caller works with standard WGS sequencing depth (>=30X), and is insensitive to various aligners (BWA and Isaac have been tested and no difference was observed). Please refer to ourpaperfor details ...
SMN1/2抗体 英文名称: Anti-SMN1/2 Antibody 产品规格: 50μl|100μl|150μl 发货周期: 1～3天 产品价格: 询价 本产品仅可用于科研实验,严禁用于其他非科研用途! 抗体名称Anti-SMN1/2 Antibody 指标别名C BCD541;Component of gems 1;Gemin 1;SMN;SMN1;SMN1;SMN;SMN2;SMNC;SMNT;Survival motor neuron ...
The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that distinguishes the two genes. SMN1 copy-number results were compared between the NGS and quantitative polymerase chain reaction and/or multiplex ligation-dependent probe amplification. The NGS data set was also ...
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Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN). A critical nucleotide difference in SMN2 compared to SMN1 gene leads to an ine...
difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. it is thought that gene conversion events may...
The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene...