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A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia

机译：GPIIb中的一种新的纯合剪接连接突变与选择性剪接，无义介导的GPIIb-mRNA衰变和II型Glanzmann血栓性衰弱有关

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8 pages.

机译：8页。

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González-Manchón Consuelo; García Arias-Salgado Elena; Butta Nora; Martín G.; Rodríguez Ramón B.; Elalamy Ismaïl; Parrilla Roberto L.; Favier Rémi;
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年度 2003
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正文语种 eng
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专利

1. A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa. [J] . Losonczy G, Rosenberg N, Kiss C, Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis . 2005 ,第5期

机译：GPIIb基因中的一种新的纯合突变（1619delC），与格兰兹曼血栓性衰弱，GPIIb-mRNA的降解以及截短的GPIIb的合成不能与GPIIIa形成复合体有关。
2. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. [J] . Ruzzi L, Pas H, Posteraro P, The Journal of investigative dermatology. . 2001 ,第1期

机译：XVII型胶原基因（COL17A1）中的纯合性无意义突变揭示了一个交替剪接的mRNA，解释了非赫利茨交界性表皮松解大疱的异常轻度形式。
3. Truncated Type XVII Collagen Expression in a Patient with Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation [J] . Manuel R van Leusden, Hendri H Pas, Tobias Gedde-Dahl, Laboratory investigation . 2001 ,第6期

机译：纯合子剪接位点突变引起的非赫利兹交界性表皮松解大疱患者中截断的XVII型胶原表达
4. Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes [C] . Richard E. Green, Benjamin P. Lewis, R. Tyler Hillman, International Conference on Intelligent Systems for Molecular biology . 2003

机译：普遍预测的无意义介导的mRNA衰减的人正常和疾病基因的替代剪接转录物
5. Gene regulation by alternative splicing and nonsense-mediated decay. [D] . Ni, Zhouli (Julie). 2007

机译：通过选择性剪接和无意义介导的衰变调节基因。
6. Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia [O] . Daniele Pillitteri, Ann-Kathrin Pilgrimm, Carl Maximilian Kirchmaier 2010

机译：Glanzmann血小板减少症的GPIIb和GPIIIa基因中的新型突变。
7. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia [O] . S Iwamoto, E Nishiumi, E Kajii, 1994

机译：外显子28突变导致糖蛋白IIB转录物和Glanzmann的血栓血管基因的替代剪接

A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia

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