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Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

机译：威尔逊疾病遗传诊断大群患者ATP7B变体的光谱和分类

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Yi Dong; Wang Ni; Wan-Jin Chen; Bo Wan; Gui-Xian Zhao; Zhu-Qing Shi; Yue Zhang; Ning Wang; Long Yu; Jian-Feng Xu; Zhi-Ying Wu;
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1. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis [J] . Yi Dong, Wang Ni, Wan-Jin Chen, Theranostics . 2016,第5期

机译：威尔逊疾病遗传诊断大群患者ATP7B变体的光谱和分类
2. Spectrum of ATP7B ATP7B ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson Disease [J] . Cheng N., Wang H., Wu W., Clinical Genetics: An International Journal of Genetics in Medicine . 2017,第1期

机译：ATP7B ATP7B ATP7B ATP7B ATP7B突变和基因型 - 表型表型相关性的大规模中国威尔逊病
3. Characterization of mutation spectrum and identification of novel mutations in ATP7B ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications [J] . Kumari Niti, Kumar Aman, Thapa Babu Ram, Human mutation . 2018,第12期

机译：来自威尔逊病患者群体突变谱和ATP7B ATP7B基因鉴定的突变谱和鉴定的特征：功能性和治疗意义
4. 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
5. 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。
6. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilsons Disease Guides Genetic Diagnosis [O] . Yi Dong, Wang Ni, Wan-Jin Chen, 2016

机译：中国威尔逊病患者队列中ATP7B变异体的光谱和分类指导遗传诊断
7. Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication [O] . Abdul Khaliq Naveed (corresponding, Asifa Majeed, Sumreena Mansoor 2015

机译：巴基斯坦威尔森病患者aTp7B基因突变谱：一种新的突变与严重的肝脏和神经系统并发症相关

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis

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