Only the tip of the Iceberg? Role of ATP ATP 7B‐exon skipping in Wilson disease

Rupp Christian; Weiss Karl Heinz

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Only the tip of the Iceberg? Role of ATP ATP 7B‐exon skipping in Wilson disease

机译：只有冰山一角？ ATP ATP 7B-EXON在威尔逊病的作用

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《Liver international :》 |2018年第8期|共2页
作者
Rupp Christian; Weiss Karl Heinz;
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作者单位

Department of Internal Medicine IVUniversity Hospital HeidelbergHeidelberg Germany;

Department of Internal Medicine IVUniversity Hospital HeidelbergHeidelberg Germany;

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正文语种 eng
中图分类内科学;
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1. Identification of two novel mutations in the ATP7B gene that cause Wilson's disease [J] . Hong-Wen Zhu, Yu-Min Li, Zhong-Bin Tao, 世界儿科杂志（英文版） . 2017,第004期
2. Identification of two novel mutations in the ATP7B gene that cause Wilson''''s disease [J] . Hong-Wen Zhu12, Zhong-Bin Tao3, Gang Su4, 世界儿科杂志(英文版) . 2017,第004期
3. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease [J] . Zhe-Feng Yuan, Wei Wu, Yong-Lin Yu, 世界儿科杂志（英文版） . 2015,第003期
4. Only the tip of the Iceberg? Role of ATP ATP 7B‐exon skipping in Wilson disease [J] . Rupp Christian, Weiss Karl Heinz Liver international : . 2018,第8期

机译：只有冰山一角？ ATP ATP 7B-EXON在威尔逊病的作用
5. Presumed missense and synonymous mutations in ATP ATP 7B gene cause exon skipping in Wilson disease [J] . Wang Chunli, Zhou Wei, Huang Yan, Liver international : . 2018,第8期

机译：ATP ATP 7B基因的假定畸形和同义突变导致威尔逊病的外显子跳过
6. Presumed missense and synonymous mutations in ATP ATP 7B gene cause exon skipping in Wilson disease [J] . Wang Chunli, Zhou Wei, Huang Yan, Liver international : . 2018,第8期

机译：ATP ATP 7B基因的假定畸形和同义突变导致威尔逊病的外显子跳过
7. NOVEL ATP7B PEPTIDE QUANTITATION IN DRIED BLOOD SPOTS BY LC-MS/MS FOR NEWBORN SCREENING OF WILSON DISEASE [C] . Sandra Kerfoot, Sihoun Hahn American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2009

机译：通过LC-MS / MS为新生儿筛查威尔逊病的新生儿肽定量新的ATP7B肽定量
8. Structural and Functional Studies of ATP7B, the Copper (I)-Transporting P-type ATPase Implicated in Wilson Disease [D] . Fatemi, Negah. 2011

机译：ATP7B的结构和功能研究，涉及威尔逊病的铜（I）传输P型ATP酶。
9. ATP7B variant c.1934T G p.Met645Arg causes Wilson disease by promoting exon 6 skipping [O] . Daniele Merico, Carl Spickett, Matthew O’Hara, 2020

机译：ATP7B变体c.1934T G p.Met645Arg通过促进外显子6跳跃而引起Wilson病
10. Only the tip of the Iceberg? Role of ATP7B-exon skipping in Wilson disease [O] . Christian Rupp, Karl Heinz Weiss 2018

机译：只有冰山一角？ ATP7B-EXON跳过威尔逊病的作用
11. Inter-Industry Diffusion of Technology That Results from ATP Products: Preliminary Research of the Potential Impacts of ATP Funding [R] . Popkin, J. 2003

机译：aTp产品产生的行业间技术扩散：aTp资金潜在影响的初步研究

Only the tip of the Iceberg? Role of ATP ATP 7B‐exon skipping in Wilson disease

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