NOVEL FAMILIAL PATHOGENIC MUTATION IN GAP JUNCTION PROTEIN, BETA-1 GENE (GJB1) ASSOCIATED WITH TRANSIENT NEUROLOGICAL DEFICITS IN A PATIENT WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE

Appu Merveen; Mar Soe

首页> 外文期刊>Muscle and Nerve >NOVEL FAMILIAL PATHOGENIC MUTATION IN GAP JUNCTION PROTEIN, BETA-1 GENE (GJB1) ASSOCIATED WITH TRANSIENT NEUROLOGICAL DEFICITS IN A PATIENT WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE

【24h】

NOVEL FAMILIAL PATHOGENIC MUTATION IN GAP JUNCTION PROTEIN, BETA-1 GENE (GJB1) ASSOCIATED WITH TRANSIENT NEUROLOGICAL DEFICITS IN A PATIENT WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE

机译：X连锁性炭疽病患者中间隙连接蛋白BETA-1基因（GJB1）的新型家族性突变与短暂性神经系统疾病相关

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Muscle and Nerve》 |2014年第6期|共2页
作者
Appu Merveen; Mar Soe;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类人体生理学;
关键词

相似文献

外文文献
中文文献
专利

1. NOVEL FAMILIAL PATHOGENIC MUTATION IN GAP JUNCTION PROTEIN, BETA-1 GENE (GJB1) ASSOCIATED WITH TRANSIENT NEUROLOGICAL DEFICITS IN A PATIENT WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE [J] . Appu Merveen, Mar Soe Muscle and Nerve . 2014,第6期

机译：X连锁性炭疽病患者中间隙连接蛋白BETA-1基因（GJB1）的新型家族性突变与短暂性神经系统疾病相关
2. Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review [J] . Hu Guanqun, Zhang Lvming, Zhang Mingjie, Clinical neurology and neurosurgery . 2019,第期

机译：新型间隙结蛋白β-1基因突变与中风样综合征和中枢神经系统的患者参与X型Charcot-Marie-Tooth型患者1：一个案例报告和文献综述
3. Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients [J] . Milley Gyorgy Mate, Varga Edina Timea, Grosz Zoltan, Neuromuscular disorders: NMD . 2016,第10期

机译：匈牙利Charcot-Marie-Tooth病患者的Gap Junction Beta 1（GJB1）基因的三个新突变和遗传流行病学分析
4. Detection of Defective'Apolipoprotein B-100 R3500Q Mutation Caused Familial Hypercholesterolemia in Vietnamese Patients [C] . Phuong Kim Truong, Cong Van Bui, Thuan Due Lao International Conference on the Development of Biomedical Engineering in Vietnam . 2018

机译：检测缺陷的'Apolipoprotein B-100 R3500Q突变引起越南患者的家族高胆固醇血症
5. The involvement of hereditary hemochromatosis mutations (C282Y and H63D) in familial Alzheimer disease and Parkinson disease and their purported origins through epidemic pathogenic selection [D] . Moalem, Sharon. 2003

机译：遗传性血细胞化突变（C282Y和H63D）在家族性阿尔茨海默病和帕金森病中的涉及及其通过流行病致病选择所称的起源
6. Transient recurrent white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report [O] . Yuan Zhao, Yanchen Xie, Xiaoquan Zhu, 2014

机译：中国新发现的间隙连接蛋白β1基因突变的x连锁性Charcot-Marie-tooth病的暂时性复发性白质病变：病例报告
7. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient [O] . Makoto Takemaru, Yutaka Shimoe, Kota Sato, 2018

机译：X型Charcot-Marie-Dootty疾病的瞬态，复发性，白质病变，具有 GJB1的杂合子突变：女性患者的病例报告

NOVEL FAMILIAL PATHOGENIC MUTATION IN GAP JUNCTION PROTEIN, BETA-1 GENE (GJB1) ASSOCIATED WITH TRANSIENT NEUROLOGICAL DEFICITS IN A PATIENT WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE

著录项

相似文献

相关主题

期刊订阅