A carrier with de novo Mutation in the dystrophin gene whose myopathic symptoms became seriously progressive after pregnancy and delivery

Hori Hiroko; Maeda Yasushi; Ishizaki Masatoshi; Hirahara Tomoo; Watanabe Masaki; Yamashita Satoshi; Yamashita Taro; Uchino Makoto; Ando Yukio

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A carrier with de novo Mutation in the dystrophin gene whose myopathic symptoms became seriously progressive after pregnancy and delivery

机译：肌营养不良蛋白基因中具有从头突变的载体，其妊娠和分娩后肌病性症状严重恶化

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《Muscle and Nerve》 |2015年第5期|共2页
作者
Hori Hiroko; Maeda Yasushi; Ishizaki Masatoshi; Hirahara Tomoo; Watanabe Masaki; Yamashita Satoshi; Yamashita Taro; Uchino Makoto; Ando Yukio;
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正文语种 eng
中图分类人体生理学;
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1. A carrier with de novo Mutation in the dystrophin gene whose myopathic symptoms became seriously progressive after pregnancy and delivery [J] . Hori Hiroko, Maeda Yasushi, Ishizaki Masatoshi, Muscle and Nerve . 2015,第5期

机译：肌营养不良蛋白基因中具有从头突变的载体，其妊娠和分娩后肌病性症状严重恶化
2. Deletional mutations of dystrophin gene and carrier detection in eastern India [J] . Jayasri Basak, Uma B. Dasgupta, Subhash Chandra Mukherjee, Indian Journal of Pediatrics . 2009,第10期

机译：印度东部肌营养不良蛋白基因的缺失突变和携带者检测
3. A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers [J] . Ahmed Ayesha, Spinty Stefan, Murday Victoria, International Journal of Cardiology . 2016,第Null期

机译：一种缺乏患者挑衅严重的'Peri-partum心肌病的缺失缺失 - 遗传症遗传学检测对女性载体的重要性
4. Bleeding Symptoms in Carriers of Hemophilia A - Association to the Factor VIII Gene Mutation? [C] . W. Miesbach, Th. Vigh, I. Stier-Bruck, Hemophilie-Symposion . 2004

机译：血友病载体中的出血症状A - 与因子VIII基因突变的关联？
5. BRCA1 and BRCA2 Mutation Carrier Perspectives on Direct-to-Consumer Genetic Testing for BRCA Mutations [D] . Mitchell, Caitlyn E. 2019

机译：BRCA1和BRCA2突变载体对BRCA突变的直接消费遗传检测的视角
6. HLA Polymorphism Affects Risk of de novo Mutation of dystrophin Gene and Clinical Severity of Duchenne Muscular Dystrophy in a Southern Chinese Population [O] . Huan Li, Lulu Xiao, Liang Wang, 2018

机译：HLA多态性影响中国南方人群肌营养不良蛋白基因从头突变的风险和杜氏神经营养不良的临床严重性
7. Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations [O] . G. Altarescu, T. Eldar-Geva, I. Varshower, 2009

机译：实时反向联动使用极体分析，对德诺突变的雌性携带者的母载体预体遗传诊断

A carrier with de novo Mutation in the dystrophin gene whose myopathic symptoms became seriously progressive after pregnancy and delivery

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