首页> 外文OA文献 >Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site Communicated by: Daniel F. Schorderet Online Citation: Human Mutation, Mutation in Brief #246 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/246.pdf

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Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site Communicated by: Daniel F. Schorderet Online Citation: Human Mutation, Mutation in Brief #246 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/246.pdf

机译：不同的体细胞和种系hprt1突变促进使用常见的，隐秘的内含子1拼接网站：Daniel F. Schorderet在线引文：人类突变，简要突变＃246（1999）在线http://journals.wiley.com/1059 -7794 / pdf /突变/ 246.pdf

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Lorel M. Colgin; Alden F.M. Hackmann; Raymond J. Monnat;
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1. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene. [J] . Habara Y, Takeshima Y, Awano H Journal of Medical Genetics . 2009,第8期

机译：体外剪接分析表明，隐性剪接位点的可用性不是由肌营养不良蛋白基因内含子中的+ 1G-> A突变引起的替代剪接模式的决定因素。
2. Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene. [J] . Schimpf S, Schaich S, Wissinger B Human Genetics . 2006,第6期

机译：隐蔽剪接位点的激活是由OPA1基因的外显子和内含子序列突变引起的常见剪接缺陷机制。
3. Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements [J] . Niba E., Nishuda A., Tran V., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：肌营养不良蛋白内含子64的剪接供体位点突变引起的隐性剪接位点激活由内含子剪接调控元件决定
4. Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia [O] . Nori Matsunami, Hari Shanmugam, Lisa Baird, -1

机译：生殖细胞而非体细胞从头突变在人类先天性ph疝中很常见
5. Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #367 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/367.pdf [O] . Xuemin Li, Joni B. Drost, Stacy Roberts, 2000

机译：因素IX突变在南非人和非洲裔美国人的突变与主要内源性影响沟通：Mark H. Paalman在线引文：Mark H. Paalman在线引文：人类突变，简要突变＃367（2000）在线http://journals.wiley.com /1059-7794/pdf/mutation/367.pdf.

Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site Communicated by: Daniel F. Schorderet Online Citation: Human Mutation, Mutation in Brief #246 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/246.pdf

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