Web-service Available for the Shannon Human Splicing Pipeline for mRNA Splicing Mutation Analysis

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Web-service Available for the Shannon Human Splicing Pipeline for mRNA Splicing Mutation Analysis

机译：Web服务可用于Shannon人类剪接管道以进行mRNA剪接突变分析

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《Genomics, proteomics & bioinformatics》 |2014年第3期|共页
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中图分类遗传学;
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1. Web-service Available for the Shannon Human Splicing Pipeline for mRNA Splicing Mutation Analysis [J] . Peter K.Rogan 基因组蛋白质组与生物信息学报（英文版） . 2014,第003期

机译：Web服务可用于Shannon人类剪接管道以进行mRNA剪接突变分析
2. Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis. [J] . Hellerud C, Adamowicz M, Jurkiewicz D, Molecular genetics and metabolism . 2003,第3期

机译：五名波兰甘油激酶缺乏症患者的临床异质性和分子发现：利用计算机接头连接分析和Xp21基因特异性mRNA分析研究两个剪接位点突变。
3. Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease [J] . Letizia Bocchi, Livia Pisciotta, Tommaso Fasano Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2010,第7a8期

机译：丹吉尔病患者ABCA1基因新的剪接位点突变导致多个异常剪接的ABCA1 mRNA
4. Distribution analysis of 5' splice site-like sequences in human and mouse pre-mRNAs [C] . Sumie Kitamura-Abe, Nobuyuki Takahashi, Atsushi Sakurai, Workshop on Genome Informatics . 2001

机译：5'接头位点样序列的分布分析在人和小鼠前MRNA中的序列
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. A 5 splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. [O] . M Vidaud, R Gattoni, J Stevenin, 1989

机译：人类β-珠蛋白基因外显子1的5剪接区G ---- C突变抑制了mRNA前剪接：一种β+地中海贫血的机制。
7. Web-service Available for the Shannon Human Splicing Pipeline for mRNA Splicing Mutation Analysis [O] . 2014

机译：Web服务可用于Shannon人类剪接管道以进行mRNA剪接突变分析

Web-service Available for the Shannon Human Splicing Pipeline for mRNA Splicing Mutation Analysis

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