A novel, in‐frame KMT2B KMT2B deletion in a patient with apparently isolated, generalized dystonia

Lange Lara M.; Tunc Sinem; Tennstedt Stephanie; Münchau Alexander; Klein Christine; Assmann Birgit; Lohmann Katja

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A novel, in‐frame KMT2B KMT2B deletion in a patient with apparently isolated, generalized dystonia

机译：一种小说，在患者中删除了明显孤立的患者的患者，普遍突破

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来源
《Movement disorders》 |2017年第10期|共3页
作者
Lange Lara M.; Tunc Sinem; Tennstedt Stephanie; Münchau Alexander; Klein Christine; Assmann Birgit; Lohmann Katja;
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作者单位

Institute of NeurogeneticsUniversity of LübeckLübeck Germany;

Institute of NeurogeneticsUniversity of LübeckLübeck Germany;

Institute for CardiogeneticsUniversity of LübeckLübeck Germany;

Institute of NeurogeneticsUniversity of LübeckLübeck Germany;

Institute of NeurogeneticsUniversity of LübeckLübeck Germany;

Department of NeuropediatricsUniversity Children's HospitalHeidelberg Germany;

Institute of NeurogeneticsUniversity of LübeckLübeck Germany;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
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1. A novel, in‐frame KMT2B KMT2B deletion in a patient with apparently isolated, generalized dystonia [J] . Lange Lara M., Tunc Sinem, Tennstedt Stephanie, Movement disorders . 2017,第10期

机译：一种小说，在患者中删除了明显孤立的患者的患者，普遍突破
2. New gene implicated in early‐onset generalized dystonia: Lysine‐specific methyltransferase 2B (KMT2B) Lysine‐specific methyltransferase 2B (KMT2B) [J] . Siow Sue‐Faye, Kumar Kishore R. Movement disorders . 2017,第3期

机译：新的基因涉及早期出现的广义肌瘤：赖氨酸特异性甲基转移酶2b（KMT2B）赖氨酸特异性甲基转移酶2b（KMT2B）
3. Generalized dystonia associated with mutation in the histone methyltransferase gene KMT2B (DYT28) and white matter abnormalities [J] . Fidel Baizabal-Carvallo Jose, Alonso-Juarez Marlene Parkinsonism & related disorders . 2018,第期

机译：与组蛋白甲基转移酶基因KMT2B（DYT28）和白质异常相关的突变相关肌瘤
4. A Study of the Midbrain Network for Covert Attentional Orienting in Cervical Dystonia Patients using Dynamic Causal Modelling [C] . Oisin Duggan, Shruti Narasimham, Eavan Mc Govern, . 2019

机译：动态因果模型研究中度神经网络对宫颈肌张力障碍患者隐性注意定向的研究
5. Wavelet and frame theory: Frame bound gaps, generalized shearlets, Grassmannian fusion frames, and p-adic wavelets. [D] . King, Emily Jeannette. 2009

机译：小波和框架理论：框架界隙，广义剪切波，格拉斯曼融合框架和p-adic小波。
6. Haploinsufficiency of KMT2B Encoding the Lysine-Specific Histone Methyltransferase 2B Results in Early-Onset Generalized Dystonia [O] . Michael Zech, Sylvia Boesch, Esther M. Maier, 2016

机译：编码赖氨酸特异性组蛋白甲基转移酶2B的KMT2B的单倍剂量不足导致早发性全身性肌张力障碍
7. Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing [O] . Jun Ma, Lin Wang, Yingmai Yang, 2019

机译：通过全外壳测序鉴定中国肌瘤患者的新型KMT2B变体

A novel, in‐frame KMT2B KMT2B deletion in a patient with apparently isolated, generalized dystonia

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